Mutation at the anophthalmic white locus in Syrian hamsters: Haploinsufficiency in the Mitf gene mimics human Waardenburg syndrome type 2

Human Molecular Genetics

Volumn 7, Issue 4, 1998, Pages 703-708

  Hodgkinson, Colin A ^a,c   Nakayama, Atsuo ^c,d   Li, Hua ^a   Swenson, Lori Beth ^b   Opdecamp, Karin ^c,e   Asher Jr , James H ^b   Arnheiter, Heinz ^c   Glaser, Tom ^a  

^a UNIVERSITY OF MICHIGAN   (United States)

^b MICHIGAN STATE UNIVERSITY   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e INSTITUT PASTEUR DE LILLE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

HELIX LOOP HELIX PROTEIN; LEUCINE ZIPPER PROTEIN; MESSENGER RNA; MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR; MUTANT PROTEIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ALLELE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; DISEASE SEVERITY; ELECTROPHORETIC MOBILITY; EMBRYO DEVELOPMENT; GENE MUTATION; HEARING IMPAIRMENT; HYPOPIGMENTATION; MICROPHTHALMIA; NONHUMAN; NONSENSE MUTATION; NORTHERN BLOTTING; PEDIGREE; PHENOTYPE; PIGMENT EPITHELIUM; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DETERMINATION; PROTEIN DNA BINDING; SYRIAN HAMSTER; WAARDENBURG SYNDROME;

AMINO ACID SEQUENCE; ANIMALS; ANOPHTHALMOS; BLOTTING, NORTHERN; CRICETINAE; DISEASE MODELS, ANIMAL; DNA-BINDING PROTEINS; HAPLOIDY; IMMUNOHISTOCHEMISTRY; MESOCRICETUS; MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MOLECULAR SEQUENCE DATA; MUTATION; PIGMENT EPITHELIUM OF EYE; POINT MUTATION; POLYMERASE CHAIN REACTION; TRANSCRIPTION FACTORS; WAARDENBURG'S SYNDROME;

ANIMALIA; CRICETINAE; MESOCRICETUS AURATUS;

EID: 0031966873     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.4.703     Document Type: Article

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