Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi coupling.

BACKGROUND: Hirschsprung's disease (HSCR) is one the most common congenital intestinal disease. It leads to aganglionic megacolon in the early childhood. Several susceptibility genes have been identified : RET protooncogene and its ligand, glial cell derived neutrophic factor (GDNF), Sox 10, En...

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Hlavní autoři: Fuchs, S., Amiel, J., Claudel, S., Lyonnet, S., Corvol, P., Pinet, F.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2001
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1950018/
https://ncbi.nlm.nih.gov/pubmed/11471546
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