Open AccessP0032 PP CLINICAL AND MOLECULAR ANALYSIS OF SEVENTEEN JAPANESE PATIENTS WITH PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS
Author(s) -
Makoto Hasegawa,
Ryo Sumazaki,
Hiroto Egawa,
Tohru Yorifuji,
Masayoshi Kage,
Akira Matsui
Publication year - 2004
Publication title -
journal of pediatric gastroenterology and nutrition
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.206
H-Index - 131
eISSN - 1536-4801
pISSN - 0277-2116
DOI - 10.1097/00005176-200406001-00156
Subject(s) - progressive familial intrahepatic cholestasis , compound heterozygosity , cholestasis , missense mutation , medicine , heterozygote advantage , elevated transaminases , gastroenterology , liver transplantation , genotype , nonsense mutation , mutation , endocrinology , genetics , biology , transplantation , gene