Mutations in hirschsprung disease: When does a mutation contribute to the phenotype

European Journal of Human Genetics

Volumn 5, Issue 4, 1997, Pages 180-185

  Hofstra, Robert M W ^a   Osinga, Jan ^a   Buys, Charles H C M ^a  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

Author keywords

EDN3; EDNRB; GDNF; Hirschsprung disease; Mutation analysis; Polymorphism; RET

Indexed keywords

GANGLION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; HIRSCHSPRUNG DISEASE; HUMAN; MISSENSE MUTATION; MULTIFACTORIAL INHERITANCE; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

EID: 0030661735     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000484760     Document Type: Review

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