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Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China
期刊: PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION, 2020; 23 (6)
Purpose: Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic autosomal recessive disease caused by mutations in ATP8B1, ABCB11 or A......