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...

Descripción completa

Detalles Bibliográficos
Autores principales: So, Man-Ting, Leon, Thomas Yuk-Yu, Cheng, Guo, Tang, Clara Sze-Man, Miao, Xiao-Ping, Cornes, Belinda K., Ngo, Diem Ngoc, Cui, Long, Ngan, Elly Sau-Wai, Lui, Vincent Chai-Hang, Wu, Xuan-Zhao, Wang, Bin, Wang, Hualong, Yuan, Zheng-Wei, Huang, Liu-Ming, Li, Long, Xia, Huimin, Zhu, Deli, Liu, Juncheng, Nguyen, Thanh Liem, Chan, Ivy Hau-Yee, Chung, Patrick Ho-Yu, Liu, Xue-Lai, Zhang, Ruizhong, Wong, Kenneth Kak-Yuen, Sham, Pak-Chung, Cherny, Stacey S., Tam, Paul Kwong-Hang, Garcia-Barcelo, Maria-Mercè
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3235168/
https://www.ncbi.nlm.nih.gov/pubmed/22174939
http://dx.doi.org/10.1371/journal.pone.0028986

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3235168/
https://www.ncbi.nlm.nih.gov/pubmed/22174939
http://dx.doi.org/10.1371/journal.pone.0028986

Ejemplares similares