Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability

The major gene for Hirschsprung disease (HSCR) encodes the receptor tyrosine kinase RET. In a study of 690 European- and 192 Chinese-descent probands and their parents or controls, we demonstrate the ubiquity of a >4-fold susceptibility from a C→T allele (rs2435357: p = 3.9 × 10(−43) in European...

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Main Authors: Emison, Eileen Sproat, Garcia-Barcelo, Merce, Grice, Elizabeth A., Lantieri, Francesca, Amiel, Jeanne, Burzynski, Grzegorz, Fernandez, Raquel M., Hao, Li, Kashuk, Carl, West, Kristen, Miao, Xiaoping, Tam, Paul K.H., Griseri, Paola, Ceccherini, Isabella, Pelet, Anna, Jannot, Anne-Sophie, de Pontual, Loic, Henrion-Caude, Alexandra, Lyonnet, Stanislas, Verheij, Joke B.G.M., Hofstra, Robert M.W., Antiñolo, Guillermo, Borrego, Salud, McCallion, Andrew S., Chakravarti, Aravinda
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2896767/
https://ncbi.nlm.nih.gov/pubmed/20598273
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.06.007
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