Article
[SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Apr 2011
Wen Peng-Qiang, Wang Guo-Bing, Chen Zhan-Ling, Cui Dong, Yuan Quan, Song Ping, Chen Shu-Li, Liao Jian-Xiang, Li Cheng-Rong
Abstract excerpt
OBJECTIVE: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) which resulted from mutation in SLC25A13 gene can present transient intrahepatic cholestasis, low birth weight, growth retardation, hypoproteinemia and so on. This study aimed to identify the mutation type of NICCD patients by DNA sequencing. METHODS: Twenty children diagnosed as NICCD were consented to enroll in this study. PCR...
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