Article
Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.
Scientific reports - 11 Jul 2016
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
Abstract excerpt
Citrin deficiency (CD) is a Mendelian disease due to biallelic mutations of SLC25A13 gene. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is the major pediatric CD phenotype, and its definite diagnosis relies on SLC25A13 genetic analysis. China is a vast country with a huge population, but the SLC25A13 genotypic features of CD patients in our country remains far from being well clarified....
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