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ABCB11 gene mutations in Chinese children with progressive intrahepatic cholestasis and low γ glutamyltransferase

✍ Scribed by Li-Yan Liu; Zhong-Lin Wang; Xiao-Hong Wang; Qi-Rong Zhu; Jian-She Wang


Book ID
111239171
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
280 KB
Volume
30
Category
Article
ISSN
0106-9543

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Progressive familial intrahepatic cholestasis (PFIC) types 1 and 2 are characterized by normal serum gamma-glutamyl transferase (GGT) activity and are due to mutations in ATP8B1 (encoding FIC1) and ABCB11 (encoding bile salt export pump [BSEP]), respectively. Our goal was to evaluate the features th