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Volumn 59, Issue 1, 1996, Pages 76-83
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Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A
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Author keywords
[No Author keywords available]
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Indexed keywords
HELIX LOOP HELIX PROTEIN;
LEUCINE ZIPPER PROTEIN;
LUCIFERASE;
MONOPHENOL MONOOXYGENASE;
MUTANT PROTEIN;
TRANSCRIPTION FACTOR;
ANIMAL CELL;
ARTICLE;
CLINICAL ARTICLE;
CONGENITAL DEAFNESS;
CONTROLLED STUDY;
DNA BINDING;
FAMILY;
FEMALE;
GENE FUNCTION;
GENE LOSS;
GENE MUTATION;
GENETIC LINKAGE;
HAPLOTYPE;
HETEROZYGOTE;
HUMAN;
HUMAN CELL;
MALE;
MELANOCYTE;
MISSENSE MUTATION;
NONHUMAN;
PEDIGREE;
PIGMENT DISORDER;
POINT MUTATION;
PRIORITY JOURNAL;
WAARDENBURG SYNDROME;
AMINO ACID SEQUENCE;
BASE SEQUENCE;
CODON, NONSENSE;
CODON, TERMINATOR;
DNA PROBES;
DNA-BINDING PROTEINS;
FEMALE;
GENES, DOMINANT;
HAPLOTYPES;
HELIX-LOOP-HELIX MOTIFS;
HUMANS;
LEUCINE ZIPPERS;
MALE;
MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR;
MOLECULAR SEQUENCE DATA;
PEDIGREE;
POINT MUTATION;
TRANSCRIPTION FACTORS;
WAARDENBURG'S SYNDROME;
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EID: 0030012628
PISSN: 00029297
EISSN: None
Source Type: Journal
DOI: None Document Type: Article |
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Times cited : (106)
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References (0)
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