Open AccessPhenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China
Author(s) -
Wen Zhang,
Ruizhu Lin,
Zhikun Lu,
Huiying Sheng,
Yi Xu,
Xiuzhen Li,
Jing Cheng,
Yamei Cai,
Xiaojian Mao,
Li Liu
Publication year - 2020
Publication title -
pediatric gastroenterology, hepatology and nutrition
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.44
H-Index - 19
eISSN - 2234-8646
pISSN - 2234-8840
DOI - 10.5223/pghn.2020.23.6.558
Subject(s) - progressive familial intrahepatic cholestasis , cholestasis , genetics , mutation , biology , gene , jaundice , gastroenterology , genotype , medicine , gene mutation , phenotype , liver transplantation , transplantation
Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic autosomal recessive disease caused by mutations in ATP8B1 , ABCB11 or ABCB4 . Mutational analysis of these genes is a reliable approach to identify the disorder.