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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Clin Invest
Egile Nagusiak: Pelet, A, Geneste, O, Edery, P, Pasini, A, Chappuis, S, Atti, T, Munnich, A, Lenoir, G, Lyonnet, S, Billaud, M
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society for Clinical Investigation 1998
Gaiak:
Research Article
Sarrera elektronikoa: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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