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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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Detalles Bibliográficos
Autores principales: Tang, Clara Sze-Man, Cheng, Guo, So, Man-Ting, Yip, Benjamin Hon-Kei, Miao, Xiao-Ping, Wong, Emily Hoi-Man, Ngan, Elly Sau-Wai, Lui, Vincent Chi-Hang, Song, You-Qiang, Chan, Danny, Cheung, Kenneth, Yuan, Zhen-Wei, Lei, Liu, Chung, Patrick Ho-Yu, Liu, Xue-Lai, Wong, Kenneth Kak-Yuen, Marshall, Christian R., Scherer, Steve, Cherny, Stacey S., Sham, Pak-Chung, Tam, Paul Kwong-Hang, Garcia-Barceló, Maria-Mercè
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3349728/
https://www.ncbi.nlm.nih.gov/pubmed/22589734
http://dx.doi.org/10.1371/journal.pgen.1002687