title: Gene analysis in delta 4-3-oxosteroid 5 beta-reductase deficiency.
authors.forename: R
authors.initials: R
authors.lastname: Sumazaki
authors.forename: N
authors.initials: N
authors.lastname: Nakamura
authors.forename: J
authors.initials: J
authors.lastname: Shoda
authors.forename: T
authors.initials: T
authors.lastname: Kurosawa
authors.forename: M
authors.initials: M
authors.lastname: Tohma
mesh_terms: D001647:Bile Acids and Salts / Q000097:blood; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D017093:Liver Failure / Q000235:genetics / Q000473:pathology; D008297:Male; D010088:Oxidoreductases / Q000172:deficiency* / Q000235:genetics; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D001647:Bile Acids and Salts; D010088:Oxidoreductases; C051860:cholestenone 5 beta-reductase