Description of two new ABCB11 mutations responsible for type 2 benign recurrent intrahepatic cholestasis in a French-Canadian family.
作者:
主题词
ATP结合匣式转运子(ATP-Binding Cassette Transporters);成年人(Adult);氨基酸序列(Amino Acid Sequence);胆小管(Bile Canaliculi);加拿大(Canada);胆汁淤积, 肝内(Cholestasis, Intrahepatic);家庭卫生(Family Health);女(雌)性(Female);基因表达调控(Gene Expression Regulation);疾病遗传易感性(Genetic Predisposition to Disease);人类(Humans);男(雄)性(Male);中年人(Middle Aged);突变, 误义(Mutation, Missense)
DOI
10.1155/2011/534918
PMID
21766090
发布时间
2022-12-07
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