Article
ABCB11 gene mutations in Chinese children with progressive intrahepatic cholestasis and low gamma glutamyltransferase.
Liver international : official journal of the International Association for the Study of the Liver - 1 Jul 2010
Liu Li-Yan, Wang Zhong-Lin, Wang Xiao-Hong, Zhu Qi-Rong, Wang Jian-She
Abstract excerpt
BACKGROUND: Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a severe autosomal recessive liver disorder of childhood that can cause cholestasis and progress to end-stage liver disease. ABCB11 gene mutations causing PFIC2 have been reported in some population groups, but not in mainland Chinese. AIMS: To elucidate the existence of and characterize ABCB11 gene mutations in mainland Chinese with...
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