https://scholars.lib.ntu.edu.tw/handle/123456789/597074
標題: | Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism | 作者: | Lam, Wai-Yee Tang, Clara Sze-Man So, Man-Ting Yue, Haibing Jacob Shujui Hsu Chung, Patrick Ho-Yu Nicholls, John M Yeung, Fanny Lee, Chun-Wai Davy Ngo, Diem Ngoc Nguyen, Pham Anh Hoa Mitchison, Hannah M Jenkins, Dagan O'Callaghan, Christopher Garcia-Barceló, Maria-Mercè Lee, So-Lun Sham, Pak-Chung Lui, Vincent Chi-Hang Tam, Paul Kwong-Hang |
關鍵字: | Biliary atresia; Cilia dysfunction; Rare variants; Whole exome sequencing | 公開日期: | 九月-2021 | 出版社: | ELSEVIER | 卷: | 71 | 來源出版物: | EBioMedicine | 摘要: | Biliary atresia (BA) is the most common obstructive cholangiopathy in neonates, often progressing to end-stage cirrhosis. BA pathogenesis is believed to be multifactorial, but the genetic contribution, especially for nonsyndromic BA (common form: > 85%) remains poorly defined. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/597074 | ISSN: | 2352-3964 | DOI: | 10.1016/j.ebiom.2021.103530 |
顯示於: | 基因體暨蛋白體醫學研究所 |
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