Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and tran...

por Zhang, Zhan-Hui, Lin, Wei-Xia, Zheng, Qi-Qi, Guo, Li, Song, Yuan-Zong
Publicado 2017

Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Ci...

por Zheng, Qi-Qi, Zhang, Zhan-Hui, Zeng, Han-Shi, Lin, Wei-Xia, Yang, Heng-Wen, Yin, Zhi-Nan, Song, Yuan-Zong
Publicado 2016

Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution

por Lin, Wei-Xia, Zeng, Han-Shi, Zhang, Zhan-Hui, Mao, Man, Zheng, Qi-Qi, Zhao, Shu-Tao, Cheng, Ying, Chen, Feng-Ping, Wen, Wang-Rong, Song, Yuan-Zong
Publicado 2016