Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease

Human Molecular Genetics

Volumn 5, Issue 3, 1996, Pages 355-357

  Amiel, Jeanne ^a   Attié, Tania ^a   Jan, Dominique ^a   Pelet, Anna ^a   Edery, Patrick ^a   Bidaud, Christelle ^a   Lacombe, Didier ^b   Tam, Paul ^c   Simeoni, Juliette ^d   Flori, Elisabeth ^e   Nihoul Fékété, Claire ^a   Munnich, Arnold ^a   Lyonnet, Stanislas ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b BORDEAUX UNIVERSITY HOSPITAL   (France)

^c JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^d TIMONE HOSPITAL   (France)

^e HÔPITAL DE HAUTEPIERRE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ENDOTHELIN B RECEPTOR; ENDOTHELIN RECEPTOR;

ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC SUSCEPTIBILITY; HETEROZYGOSITY; HIRSCHSPRUNG DISEASE; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTESTINE INNERVATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NEURAL CREST; NUCLEOTIDE SEQUENCE; PENETRANCE; PRIORITY JOURNAL; WAARDENBURG SYNDROME;

FEMALE; HETEROZYGOTE; HIRSCHSPRUNG DISEASE; HUMANS; MALE; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTOR, ENDOTHELIN B; RECEPTORS, ENDOTHELIN; SEQUENCE DELETION;

EID: 9044220230     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.3.355     Document Type: Article

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