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  1. Albinism: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Melissa Knopper, 2005
  2. Griscelli syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Sonya Kunkle, 2005
  3. Hermansky-Pudlak syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Suzanne, MS, CGC Carter, 2005

1. U Of M: Department Of Genetics, Cell Biology And Development
back to top. Selected Publications Oetting WS, albinism genetics, in Nature Encyclopediaof the Human Genome, Nature Publishing Group, London (in press).
http://www.gcd.med.umn.edu/html/faculty pages/oetting.html
Return to: College of Biological Sciences Medical School U of M Home One Stop ... MCB Home William S. Oetting Assistant Professor Areas of Research Research Techniques Research Interests Selected Publications ... Related Links
Mailing Address:
University of Minnesota
Department of Genetics, Cell Biology, and Development
6-160 Jackson
321 Church St. SE
Minneapolis, MN 55455
USA
Education:
Ph.D., University of Nebraska
Office: 4-136 Moos Tower P:612-624-1139 F: 612-624-6645 Email: bill@lenti.med.umn.edu Oetting Lab: 5-180 MCB P: 612-625-5628 GCRC Lab: 4-136 Moos Tower P: 612-624-4929 Areas of Research Strength: Molecular analysis of albinism Analysis of complex genetic disorders back to top Research Techniques: STRP genotyping SNP analysis DNA sequencing back to top Research Interests: Oetting's research involves two major areas: the molecular analysis of pigment genes in humans, particularly those genes associated with oculocutaneous albinism (OCA), and the molecular analysis of genes

2. Genetics Education Center
Information); Gene Stories, BBC stories and online activities, geneticsbasics, Clone Zone, albinism, Life is a Lottery; Gene Therapy
http://www.kumc.edu/gec/
Genetics Education Center
University of Kansas Medical Center For educators interested in human genetics and the human genome project Human Genome Project Resources (books, videos, curricula) Lesson Plans Networking Genetic Conditions Careers ... Search The Human Genome Project

3. Ask NOAH About: Genetic Disorders
Achromatopsia. Adrenoleukodystrophy. Aicardi Syndrome. albinism/Hypopigmentation. Alexander Disease BranchioOto-Renal (BOR) Syndrome. Cancer genetics. Cephalic Disorders. Cerebral Palsy
http://www.noah-health.org/english/illness/genetic_diseases/geneticdis.html
Ask NOAH About: Genetic Disorders
Ask NOAH About: Genetic Disorders is a work-in-progess on diseases that have a known or suspected genetic origin. This page will attempt to keep pace with the the Human Genome Project's published breakthoughs on genetic medicine. If the genetic disorder you need information on is not listed here, please try the NOAH search engine . For information on basic genetics, please visit Ask NOAH About: Genetics, Genomes, Cell Biology, and Cloning What are Genetic Disorders? Genetics Basics
The Basics

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Children
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Living with Genetic Diseases

Specific Conditions Achromatopsia
Adrenoleukodystrophy

Aicardi Syndrome

Albinism/Hypopigmentation
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Information Resources
What Are Genetic Disorders?
Genetics Basics
The Basics
Birth Defects - Merck Manual, 2nd Home Edition
Birth Defects - March of Dimes (NOAH PROVIDER) (also in Spanish
Changes to Chromosomes - New South Wales Genetics Program, Australia
Changes to Chromosomes: Translocations - New South Wales Genetics Program, Australia
An Introduction to Genetics and Genetic Testing - Kidshealth ...
Genetics and Neuromuscular Diseases - Muscular Dystrophy Association (also in Spanish
Genetics Overview - Merck Manual Home Edition
Genes and Disease - NCBI ...
Genes and Populations - National Institute of General Medical Sciences (also in Spanish
Heritable Disorders of Connective Tissue - NIAMS
Impact of Medical Genetics - Mountain States Genetics Network
Simply Stated: Genetic Myths - Muscular Dystrophy Association ...
What are Genetic Disorders? - University of Utah

4. Albinism; Treatment, Prevention, Cure
Food, Nutrition and Metabolism. genetics/Birth Defects. Heart and Circulation Types of albinism, genetics of albinism. Famous People with albinism
http://www.healthlinkusa.com/content/7.html
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5. NOAH — What Is Albinism?
pigmentation. Type 1 albinism results from a genetic defect in an enzymecalled tyrosinase. This bleeding. genetics of albinism. For
http://www.albinism.org/publications/what_is_albinism.html
What is Albinism?
Download the pdf version. Requires Adobe Acrobat Reader
The word "albinism" refers to a group of inherited conditions. People with albinism have little or no pigment in their eyes, skin, or hair. They have inherited genes that do not make the usual amounts of a pigment called melanin. One person in 17,000 in the U.S.A. has some type of albinism. Albinism affects people from all races. Most children with albinism are born to parents who have normal hair and eye color for their ethnic backgrounds. Often people do not recognize that they have albinism. A common myth is that by definition people with albinism have red eyes. In fact there are different types of albinism, and the amount of pigment in the eyes varies. Although some individuals with albinism have reddish or violet eyes, most have blue eyes. Some have hazel or brown eyes.
Vision Problems
People with albinism always have problems with vision, and many have low vision. Many are "legally blind," but most use their vision for reading, and do not use braille. Some have vision good enough to drive a car. Vision problems in albinism result from abnormal development of the retina and abnormal patterns of nerve connections between the eye and the brain. It is the presence of these eye problems that defines the diagnosis of albinism. Therefore the main test for albinism is simply an eye exam.

6. NOAH's Albinism On-line Community - Search Results
Parents of Children with albinism. Reply To albinism genetics Video. YaZ Parents of Children with albinism. Topic albinism genetics Video. YaZ. May 05, 2002 0508 PM
http://community.albinism.org/2/OpenTopic?a=srch&s=489091824&u=819304053

7. Facts About Albinism
Questions and Answers What is albinism? What is melanin pigment? How does melanin form? What Are the Problems with albinism? What Eye Problems Result from albinism. What Can be Done for the Eye Problems? the gene to sons who have ocular albinism. See appendix, "Understanding genetics", for an explanation of the way
http://www.cbc.umn.edu/iac/facts.htm
Index
Questions and Answers:
What is Albinism?
What is melanin pigment?

How does melanin form?

What Are the Problems with Albinism?
...
Autosomal Recessive Ocular Albinism (AROA)
Common Questions About Albinism
Can people with albinism have children?
Do people with albinism have a normal life span?

Do people with albinism have normal intelligence?

Where can I get more information about albinism?
...
What Causes Albinism? Why are children born with it?
Understanding Genetics
Understanding Genetics
Autosomal Recessive Inheritance

X-Linked Inheritance
Miscellaneous
Other Reading: Definitions of Words About the Authors
What is Albinism? The word " albinism " refers to a group of inherited conditions. People with albinism have little or no pigment in the eyes, skin, and hair (or in some cases in the eyes alone). They have inherited from their parents an altered copy of a genes that does not work correctly. The altered gene does not allow the body to make the usual amounts of a pigment called melanin Approximately one in 17,000 people have one of the types of albinism. About 18,000 people in the United States are affected. Albinism affects people from all races. The parents of most children with albinism have normal hair and eye color for their ethnic background, and do not have a family history of albinism.
What is melanin pigment?

8. Children Of An Albino
vanhoeck = Dear AbbodiePlease see the section entitled, genetics of albinism on the following
http://www.newton.dep.anl.gov/askasci/mole00/mole00325.htm
Ask A Scientist
Molecular Biology Archive
Children of an Albino
Sunday, September 08, 2002
Back to General Science Topics
Ask A Scientist Index NEWTON Homepage Ask A Question ...
NEWTON
is an electronic community for Science, Math, and Computer Science K-12 Educators.
Argonne National Laboratory, Division of Educational Programs, Harold Myron, Ph.D., Division Director.

9. International Albinism Center
Welcome to the homepage of the International albinism Center at the University of Minnesota. The International albinism Center is a team of dedicated research professionals interested in understanding the basis of albinism in humans. albinism in humans. We are a multidisciplinary group of researchers that include interests in clinical genetics
http://www.cbc.umn.edu/iac
Welcome to the homepage of the International Albinism Center at the University of Minnesota.
The International Albinism Center is a team of dedicated research professionals interested in understanding the basis of albinism in humans. We are a multi-disciplinary group of researchers that include interests in clinical genetics, molecular biology, ophthalmology, dermatology, and biochemistry, all with a central theme of understanding the cause and effect of albinism and other forms of pigment loss in humans. We have published several papers on different aspects of albinism as a result of this collaborative effort.
Facts About Albinism - Revised
This is an electronic copy of the publication Facts About Albinism written by Drs. Richard A. King, C. Gail Summers, James W. Haefemeyer and Bonnie LeRoy. This is a good source of basic information about albinism. This also contains a list of Definitions of Words at the end of the book. This is a link to a review paper on the different types of albinism and the affect of albinism on the eye.
Are you doing a report on albinism?

10. Gene Stories - Health
origin. The genetics of albinism. Several pigmentation. Type 1 albinismresults from a genetic defect in an enzyme called tyrosinase. This
http://www.bbc.co.uk/health/genes/disorders/recessive_2.shtml
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Help Like this page? Send it to a friend! PRINT PAGE An example of recessive inheritance: albinism Our facial features, just like the rest of our body, are 'designed' by our genes. Albinism is a group of conditions where people are born with little or no pigmentation in their eyes, skin and hair (or sometimes just in the eyes alone). It occurs because they have inherited one or more faulty genes that do not produce the usual amounts of a pigment called Melanin. Apart from their physical appearance, those with the condition can experience a number of associated problems, depending on which genetic type they have. Particularly common are problems with vision and from skin burning in sunlight. About 1 in 17,000 children born in the UK have some type of Albinism. It affects all races, but may be slightly more common in some, such as those of black African origin. The genetics of albinism Several different genes are involved with pigment production, including genes on chromosomes 9,10, 11,13,15 and X, but it's not clear exactly what role each of these plays in the condition. In most cases there is no family history and the children are born to parents with normal pigmentation for their race.

11. BBC - H2g2 - Albinism
being a carrier. For further details on genetics and other aspectsof albinism, please see the referenced links. To summarise, the
http://www.bbc.co.uk/h2g2/guide/A622432
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New visitors: Returning BBCi members: BBC Homepage The Guide to Life The Universe and Everything Life Created: 20th September 2001 Albinism Front Page Who's Online Add Entry Peer Review ... Help Like this page? Send it to a friend! Albinism is a genetic condition which results in a lack of pigmentation in the eyes, skin and hair . It is an inherited condition caused by altered genes being passed on from an individual's parents. Various problems with vision and eyesight can result from the condition. Lack of Pigmentation The altered gene which results in albinism prevents the body making the usual amounts of a pigment called melanin . Melanin helps protect the skin from ultraviolet light coming from the Sun . People with albinism lack this protective pigment in their skin, and can burn easily from exposure to the Sun as a result. Lack of melanin in the eye results in problems with vision, as the eye will not develop properly without the pigment. Individuals with albinism often have white hair and pale skin which makes them stand out from their families and friends, and from other members of their ethnic group. This can lead to social problems. Growth and development of children with albinism should be normal, however, as should their general health, life span, intelligence, and ability to have children.

12. Genetic Crosses
Basic genetics. Genetic and Morphological Terms. (developed by Ron Michelotti).albinism a simple recessive mutation where the animal completely lacks melanin.
http://www.classreptilia.com/basic_genetics.htm
Basic Genetics
Genetic and Morphological Terms
(developed by Ron Michelotti) Albinism - a simple recessive mutation where the animal completely lacks melanin Allele - (see gene) Anerytherism - a simple recessive mutation where the animal lacks erythrin, or red pigment Axanthism - a simple recessive mutation where the animal completely lacks yellow and red pigment Codominant mutation - this mutation is expressed in varying degrees whenever the mutant allele appears in the genotype; it can be intensified if the offspring receives the mutant alleles from both parents (homozygous condition) Dihybrid cross - shows the possible genotype of offspring as the result of the pairing of two different genes Dominant character - the individual need only receive one dominant allele from one parent to be expressed (unlike a simple recessive trait); uppercase letters are often used in writing the genotype Double Het(erozygous) - the animal is heterozygous for two different traits F1 (filial 1) - 1st generation from parental generation (usually an original pair from a particular bloodline or wild type) F2 (filial 2) - 2nd generation from parental generation; in herpetoculture, these offspring have been selectively bred and are often more desirable in color and/or pattern variations

13. Bengal Cats: Genetics Of Cats, Domestic Cat Genetics & Wild Cat Genetics, Chromo
to all the others in this category, producing a complete albinism (lack of and thereforethe risk of brining in undesirable or contrary genetics and mutations
http://www.hdw-inc.com/genetics.htm
Photo of Foothill Felines Bengal Kitten Taken By Richard Poeschel THIS IS A HUGE SUBJECT, AND WE HAVE BARELY "SCRATCHED" THE SURFACE!! Click on topic of interest: Basic Genetics Genetic Example (White Cat) Mutations Body Conformation Genes ... The Bengal Cat
BASIC GENETICS Each feline is incredibly unique, as we all know.
Basically, the study of genetics is the fascinating study of the evolution of life itself , on a much smaller scale. The method of passing the genetic code of the parents to the next generation through the "germ" cells (ova in females and sperm in males), is one of the most awesome and incredibly beautiful processes in nature.
Long, irregular threads of genetic material called chromosomes are found within the nucleus of a cell, and they are arranged in pairs. Cats have 19 pairs of chromosomes; people have 23 pairs of chromosomes. For cats, it is these 38 chromosomes which make up the unique, individual "blueprint" for that animal. The chromosomes are covered with hundreds of thousands to millions of light and dark colored bands which are the actual genetic codes, called genes. Each gene controls a single feature or a group of features in the makeup of an individual. Even this concept becomes more complicated as many of the genes interact with other genes! A single feature of an individual may be controlled by many different genes, which makes "mapping" of the genes very difficult, and for cats, only a few major genes have been mapped out to date.

14. AllRefer Encyclopedia - Albino (Genetics And Genetic Engineering) - Encyclopedia
albino, genetics And Genetic Engineering. albinism is inherited as a Mendelianrecessive character (see Mendel; genetics) in humans and other animals.
http://reference.allrefer.com/encyclopedia/A/albino.html
AllRefer Channels :: Health Yellow Pages Reference Weather SEARCH : in Reference June 06, 2004 You are here : AllRefer.com Reference Encyclopedia Genetics And Genetic Engineering ... albino
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albino, Genetics And Genetic Engineering
Related Category: Genetics And Genetic Engineering albino [alb I O Pronunciation Key Mendel genetics ) in humans and other animals. Through experimental breeding, races of albinos have been established among some domestic animals, e.g., mice, rabbits, pigeons, and chickens. Albino animals are sometimes held sacred, for example, white elephants in Thailand and white cattle in India. The presence of an excess of black pigment is called melanism.
Topics that might be of interest to you: genetics
Gregor Johann Mendel

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    More articles from AllRefer Reference on albino
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  • 15. Albinism - Encyclopedia Article About Albinism. Free Access, No Registration Nee
    based or classical genetics, molecular genetics, evolutionary biology and populationgenetics. Where an individual receives one albinism gene and one normal
    http://encyclopedia.thefreedictionary.com/Albinism
    Dictionaries: General Computing Medical Legal Encyclopedia
    Albinism
    Word: Word Starts with Ends with Definition Albinism is a genetic Genetics is the science of genes, heredity, and the variation of organisms. Humans began applying knowledge of genetics in prehistory with the domestication and breeding of plants and animals. Within organisms, genetic information generally is carried in chromosomes, where it is represented in the chemical structure of particular DNA molecules.
    Closely-related fields
    The science
    Click the link for more information. condition resulting in a lack of pigmentation In biology, pigment is any color in plant or animal cells. Nearly all types of cells, such as skin, eyes, fur and hair contain pigment. Creatures that have deficient pigmentation are called albinos. In the coloring of paint, ink, plastic, fabric and other material, a pigment is a dry colorant, usually an insoluble powder. There are both natural and synthetic pigments, both organic and inorganic ones. Pigments work by selectively absorbing some parts of the visible spectrum (see light) whilst reflecting others.
    Click the link for more information.

    16. NOAH — Information For Students Writing A Report On Albinism
    For more information on the genetics of albinism, see the NOAH InformationBulletin What is albinism Top. Where can I find facts about albinism?
    http://www.albinism.org/faq/report.html
    Information for
    Students Assigned a Report on Albinism
    What is albinism?
    Where can I find facts about albinism?

    What do people with albinism look like?

    What is it like to have albinism?
    ...
    I Read EVERYTHING here and I still have questions about albinism. How can I contact NOAH?

    What is albinism?
    Albinism is a group of genetic conditions that causes a lack of pigment. It can effect only the eyes (ocular albinism) or both the eyes and skin (oculocutaneous albinism). Most types of albinism are inherited when an individual receives the albinism gene from both parents. The exception is one type of ocular albinism, which is passed on from mothers to their sons.
    For more information on the genetics of albinism, see the NOAH Information Bulletin What is Albinism
    Top

    Where can I find facts about albinism?
    Top
    What do people with albinism look like? While most people with albinism have very light skin and hair, not all do. In less pigmented types of oculocutaneous albinism, (the type of albinism that affects both the skin and the eyes), hair and skin are cream-colored. In types with slight pigmentation, hair appears more yellow or red-tinged People with ocular albinism (albinism that only affects the eyes) usually have normal or only slightly lighter than normal physical appearance. A common myth is that by definition people with albinism have red eyes. In fact there are different types of albinism, and the amount of pigment in the eyes varies. Most individuals with albinism have blue eyes. Some have hazel or brown eyes. See

    17. Syndromic Albinism: A Review Of Genetics And Phenotypes
    Syndromic albinism A review of genetics and phenotypes Noah S Scheinfeld MD JDDermatology Online Journal 9 (5) 5. From the Department of Dermatology, St.
    http://dermatology.cdlib.org/95/reviews/albinism/scheinfeld.html
    DOJ
    Contents
    Syndromic albinism: A review of genetics and phenotypes
    Noah S Scheinfeld MD JD
    Dermatology Online Journal 9 (5): 5
    From the Department of Dermatology, St. Luke's-Roosevelt Hospital Center and Beth Israel Medical Center, New York. scheinfeld@earthlink.net
    Abstract
    There are several syndromes of albinism associated with systemic pathology. These include Chediak-Higashi Syndrome (CHS), Hermansky-Pudlack Syndrome (HPS), Griscelli Syndrome (GS), Elejalde Syndrome (ES) and Cross-McKusick-Breen Syndrome (CMBS). In the last several years the genetic defects underlying some of these syndromes have been described. HPS is related to 7 genes in humans. GS is related to 3 genes: MYOVA, Rab-27A, and melanophilin (Mlph). CHS is related to one gene: LYST. The genetic defects in ES and CMBS are yet to be defined. Syndromic forms of albinism are associated with defects in the packaging of melanin and other cellular proteins. As such they are distinct from oculocutaneous albinism, which is associated with defects in the production of melanin (e.g., TRP1, P gene, and tyrosinase). There are several syndromes of albinism associated with systemic pathology. These include Chediak-Higashi Syndrome (CHS), Hermansky-Pudlack Syndrome (HPS), Griscelli Syndrome (GS), Elejalde Syndrome (ES), and Cross-McKusick-Breen Syndrome (CMBS). In the last several years, genetic defects underlying some of these syndromes have been described (Table 1). Moreover, variants and novel clinical phenotypes have been described as well. The common etiologic element of these syndromes seems to involve defective formation of secretory vesicles and lysosomes. This article reviews these syndromes with particular attention on newly described genetic defects and phenotypes.

    18. Albinism; What Is Albinism (Bianca Knowlton)
    genetics of albinism (top) For nearly all types of albinism both parentsmust carry an albinism gene to have a child with albinism.
    http://www.knowlton.clara.net/family/Albinism/what_is_albinism.htm
    c (more information coming....) The word "albinism" refers to a group of inherited conditions. People with albinism have little or no pigment in their eyes, skin, or hair. They have inherited genes that do not make the usual amounts of a pigment called melanin. One person in 17,000 has some type of albinism. Albinism affects people from all races. Most children with albinism are born to parents who have normal hair and eye colour for their ethnic backgrounds. Often people do not recognize that they have albinism. A common myth is that by definition people with albinism have red eyes. In fact there are different types of albinism, and the amount of pigment in the eyes varies. Although some individuals with albinism have reddish or violet eyes, most have blue eyes. Some have hazel or brown eyes. With me ( Bianca) , I am classed as a full Albino, with pink eyes and nystagmus, pale skin & white hair and visually classed as borderline Braille user but, Hey..... I can still spot a good looking guy at 10 paces... how I do that will be explained in the page "What do I see as an Albino". Vision Problems top ) People with albinism always have problems with vision, and many have low vision. Many are "legally blind," but most use their vision for reading, and do not use Braille. Some have vision good enough to drive a car.

    19. Genetics
    None of them studied genetics! Index. DNA. Genes and Alleles. Chromosomes. Inheritanceof Sex. Blue and Brown eyes (other colours as well). PKU. albinism. Haemophilia.
    http://www.purchon.com/biology/genetics.htm
    Genetics Gondar Design Biology Genetics is the study of heredity. If you understand genetics you will be able to work out why you look like each of your parents and your siblings (brothers and sisters) but are not exactly like any one of them: unless you have an identical twin. Don't be worried in the exam if you are given an example which you have not studied: if you understand the principles you will probably find GCSE question on genetics quite easy. Don't you just hate it when you are lying in your pram gurgling away and all your dad's family come up and say "Ooooh doesn't he look just like his dad?" and then all your mum's family come and say "Oooh doesn't she look just like her mum?". None of them studied genetics! Index DNA Genes and Alleles Chromosomes Inheritance of Sex ... Glossary All living things inherit their characteristics in very much the same way. What you learn here is true for all animals, green plants and fungi. There a some differences in the mechanisms in prokaryotes even though they use DNA as we do. This page is just about inheritance in Eukaryotes, i.e. those things with proper nuclei. (animals, green plants and fungi.)

    20. Internet Public Library: Genetics
    Includes references to albinism in film, literature, and public figures. ElectronicScholarly Publishing Classic Papers in genetics http//www.esp.org/ This
    http://www.ipl.org/div/subject/browse/sci36.20.00/
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    ... Genetics This collection All of the IPL Advanced The study of heredity and variation in orgasnisms.
    Resources in this category:
    You can also view Magazines Associations on the Net under this heading.
    Albinism in Popular Culture
    http://www.lunaeterna.net/popcult/
    The website explores the history and mythology of albinism and highlights how it is perceived in popular culture. Includes references to albinism in film, literature, and public figures.
    Electronic Scholarly Publishing: Classic Papers in Genetics
    http://www.esp.org/
    "This site is dedicated to the electronic publishing of scientific and other scholarly materials. Of particular interest are the history of science, genetics, computational biology, and genome research." Highlights of the site include full-text reproductions of classic papers and books in these fields, a chronology of genetics, and relevant links.
    FlyBase
    http://flybase.net/
    A searchable database that provides extensive genetic information for the fruit fly, Drosophila. It provides various search engines for differing genetic tools such as genes, vectors, nucleotide sequences. It also includes a 73,000+ citation bibliography about Drosophilia and an address book of researchers as well as basic information on genes, gene products, genetic maps, genetic tools, and gene products related to Drosophila.
    GenBank
    http://www.ncbi.nlm.nih.gov/Genbank/GenbankOverview.html

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