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...

全面介紹

Na minha lista:
書目詳細資料
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
格式: Artigo
語言:Inglês
出版: Elsevier 2010
主題:
Article
在線閱讀: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
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!

相似書籍