Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene

Nature Genetics

Volumn 8, Issue 3, 1994, Pages 251-255

  Tassabehji, Mayada ^a   Newton, Valeria E ^b   Read, Andrew P ^a  

^a ST MARY S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALBERS SCHOENBERG DISEASE; ALTERNATIVE RNA SPLICING; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 3P; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENE STRUCTURE; HEARING LOSS; HUMAN; HUMAN CELL; MICROPHTHALMIA; PRIORITY JOURNAL; SKIN PIGMENTATION; WAARDENBURG SYNDROME;

AMINO ACID SEQUENCE; ANIMAL; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 3; DISEASE MODELS, ANIMAL; DNA-BINDING PROTEINS; EYE COLOR; GENES, STRUCTURAL; HAIR COLOR; HAPLOTYPES; HEARING LOSS, SENSORINEURAL; HELIX-LOOP-HELIX MOTIFS; HUMAN; LEUCINE ZIPPERS; MICE; MICE, MUTANT STRAINS; MICROPHTHALMOS; MOLECULAR SEQUENCE DATA; PEDIGREE; RNA SPLICING; SUPPORT, NON-U.S. GOV'T; TRANSCRIPTION, GENETIC; WAARDENBURG'S SYNDROME;

EID: 0027943189     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1194-251     Document Type: Article

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