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Genome-wide copy number analysis uncovers a new HSCR gene: NRG3.

Hirschsprung disease (HSCR) is a congenital disorder characterized by aganglionosis of the distal intestine. To assess the contribution of copy number variants (CNVs) to HSCR, we analysed the data generated from our previous genome-wide association study on HSCR patients, whereby we identified NRG1...

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Autors principals: Clara Sze-Man Tang, Guo Cheng, Man-Ting So, Benjamin Hon-Kei Yip, Xiao-Ping Miao, Emily Hoi-Man Wong, Elly Sau-Wai Ngan, Vincent Chi-Hang Lui, You-Qiang Song, Danny Chan, Kenneth Cheung, Zhen-Wei Yuan, Liu Lei, Patrick Ho-Yu Chung, Xue-Lai Liu, Kenneth Kak-Yuen Wong, Christian R Marshall, Stephen W Scherer, Stacey S Cherny, Pak-Chung Sham, Paul Kwong-Hang Tam, Maria-Mercè Garcia-Barceló
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science (PLoS) 2012-01-01
Col·lecció:PLoS Genetics
Accés en línia:http://europepmc.org/articles/PMC3349728?pdf=render
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