Article
Analysis of JAG1 gene variant in Chinese patients with Alagille syndrome.
Gene - 10 May 2012
Wang Honglian, Wang Xiaohong, Li Qiaoli, Chen Shiting, Liu Liyan, Wei Zhiyun, Wang Lei, Liu Yun, Zhao Xinzhi, He Lin, Wang Jianshe, Xing Qinghe
Abstract excerpt
Alagille syndrome (AGS) is an autosomal dominant disorder characterized by bile duct paucity. It can be caused by variations in the JAG1 gene encoding a protein of Notch ligand and by variations in the NOTCH2 gene encoding a Notch receptor. In this study we identified 15 different JAG1 gene variations in 17 Chinese patients, nine of which were novel alterations including c.766G > T, c.819delC, c.826delT,...
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