Open AccessP0188 SRD5B1 (AKR1D1) GENE ANALYSIS IN DELTA4???3-OXOSTEROID 5BETA-REDUCTASE DEFICIENCY: EVIDENCE FOR PRIMARY GENETIC DEFECT
Author(s) -
Emmanuel Gonzalès,
Danièle Cresteil,
Christiane Baussan,
A. Dabadie,
Marie-Françoise Gerhardt,
E. Jacquemin
Publication year - 2004
Publication title -
journal of pediatric gastroenterology and nutrition
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 1.206
H-Index - 131
eISSN - 1536-4801
pISSN - 0277-2116
DOI - 10.1097/00005176-200406001-00312
Subject(s) - chenodeoxycholic acid , bile acid , cholestasis , cholic acid , medicine , progressive familial intrahepatic cholestasis , ursodeoxycholic acid , compound heterozygosity , endocrinology , gastroenterology , biology , biochemistry , mutation , gene , transplantation , liver transplantation