Condition: Bile acid synthesis defect, congenital, 1
rs104894518
in
HSD3B7
gene and
Bile acid synthesis defect, congenital, 1
PMID 11067870
2000 The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis.
PMID 12679481
2003 Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease.