Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

Nature Genetics

Volumn 12, Issue 4, 1996, Pages 442-444

  Edery, Patrick ^a   Attié, Tania ^a   Amiel, Jeanne ^a   Pelet, Anna ^a   Eng, Charis ^b,c   Hofstra, Robert M W ^d   Martelli, Hélène ^a   Bidaud, Christelle ^a   Munnich, Arnold ^a   Lyonnet, Stanislas ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b DANA FARBER CANCER INSTITUTE   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d UNIVERSITY OF GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ENDOTHELIN 3;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; DELETION MUTANT; GENE DELETION; GENE MUTATION; GENETIC PREDISPOSITION; HIRSCHSPRUNG DISEASE; HUMAN; MEGACOLON; NEURAL CREST; PRIORITY JOURNAL; RECEPTOR GENE; WAARDENBURG SYNDROME;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHILD, PRESCHOOL; DNA; ENDOTHELINS; FEMALE; GENES, RECESSIVE; HIRSCHSPRUNG DISEASE; HOMOZYGOTE; HUMANS; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; NEURAL CREST; PHENOTYPE; WAARDENBURG'S SYNDROME;

EID: 0006457459     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0496-442     Document Type: Article

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