RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

Rare (RVs) and common variants of the RET gene contribute to Hirschsprung disease (HSCR; congenital aganglionosis). While RET common variants are strongly associated with the commonest manifestation of the disease (males; short-segment aganglionosis; sporadic), rare coding sequence (CDS) variants ar...

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Bibliographic Details
Main Authors: Man-Ting So, Thomas Yuk-Yu Leon, Guo Cheng, Clara Sze-Man Tang, Xiao-Ping Miao, Belinda K Cornes, Ngoc Ngo Diem, Long Cui, Elly Sau-Wai Ngan, Vincent Chai-Hang Lui, Xuan-Zhao Wu, Bin Wang, Hualong Wang, Zheng-Wei Yuan, Liu-Ming Huang, Long Li, Huimin Xia, Deli Zhu, Juncheng Liu, Thanh Liem Nguyen, Ivy Hau-Yee Chan, Patrick Ho-Yu Chung, Xue-Lai Liu, Ruizhong Zhang, Kenneth Kak-Yuen Wong, Pak-Chung Sham, Stacey S Cherny, Paul Kwong-Hang Tam, Maria-Mercè Garcia-Barcelo
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2011-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3235168?pdf=render

Internet

http://europepmc.org/articles/PMC3235168?pdf=render

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