Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.

Hirschsprung's disease (HSCR) is a common congenital malformation characterized by the absence of intramural ganglion cells of the hindgut. Recently, mutations of the RET tyrosine kinase receptor have been identified in 50 and 15-20% of familial and sporadic HSCR, respectively. These mutations...

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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Pelet, A, Geneste, O, Edery, P, Pasini, A, Chappuis, S, Atti, T, Munnich, A, Lenoir, G, Lyonnet, S, Billaud, M
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 1998
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC508697/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/9502784/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI375
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