Open AccessIntrahepatic cholestasis in two omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V)
Author(s) -
Hassib Narchi,
Suhailah Alhefeiti,
Fatmah Althabahi,
Jozef Hertecant,
A. S. Knisely,
AbdulKader Souid
Publication year - 2017
Publication title -
the saudi journal of gastroenterology/saudi journal of gastroenterology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.608
H-Index - 32
eISSN - 1998-4049
pISSN - 1319-3767
DOI - 10.4103/sjg.sjg_178_17
Subject(s) - cholestasis , progressive familial intrahepatic cholestasis , exome sequencing , medicine , mutation , phenotype , exome , gastroenterology , genetics , pediatrics , bioinformatics , biology , gene , transplantation , liver transplantation