Open AccessClinical characteristics and genetic profiles of young and adult patients with cholestatic liver disease
Author(s) -
Minh Tuan Huynh,
Truong Tam Nguyen,
Sophie Grison,
Olivier Lascols,
E Fernández,
Véronique Barbu
Publication year - 2019
Publication title -
revista española de enfermedades digestivas/revista española de enfermedades digestivas
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.331
H-Index - 38
eISSN - 2340-4167
pISSN - 1130-0108
DOI - 10.17235/reed.2019.6168/2019
Subject(s) - progressive familial intrahepatic cholestasis , missense mutation , cholestasis , genetics , phenotype , liver disease , bile acid , compound heterozygosity , biology , gene , medicine , bioinformatics , endocrinology , liver transplantation , transplantation
heterozygous ABCB4, ABCB11 and ATP8B1 sequence variants were previously reported to be associated with low phospholipid-associated cholelithiasis, intrahepatic cholestasis of pregnancy, benign recurrent intrahepatic cholestasis and biliary lithiasis. The present study aimed to identify the presence of sequence variations in genes responsible for Mendelian liver disorders in patients with cholestatic liver disease.