title: SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect.
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Gonzales
authors.forename: Danièle
authors.initials: D
authors.lastname: Cresteil
authors.forename: Christiane
authors.initials: C
authors.lastname: Baussan
authors.forename: Alain
authors.initials: A
authors.lastname: Dabadie
authors.forename: Marie-Françoise
authors.initials: MF
authors.lastname: Gerhardt
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Jacquemin
mesh_terms: D001483:Base Sequence; D001647:Bile Acids and Salts / Q000378:metabolism; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D004200:Diseases in Twins / Q000235:genetics*; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D017093:Liver Failure / Q000201:enzymology / Q000235:genetics; D008661:Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics*; D010088:Oxidoreductases / Q000172:deficiency* / Q000235:genetics*; D017354:Point Mutation; D014430:Twins, Monozygotic
chemical_list: D001647:Bile Acids and Salts; D004247:DNA; D010088:Oxidoreductases; C051860:cholestenone 5 beta-reductase