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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...

詳細記述

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書誌詳細
主要な著者: Pelet, A, Geneste, O, Edery, P, Pasini, A, Chappuis, S, Atti, T, Munnich, A, Lenoir, G, Lyonnet, S, Billaud, M
フォーマット: Artigo
言語:Inglês
出版事項: 1998
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC508697/
https://ncbi.nlm.nih.gov/pubmed/9502784
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