SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect.
Gonzales
Emmanuel
E
Cresteil
Danièle
D
Baussan
Christiane
C
Dabadie
Alain
A
Gerhardt
Marie-Françoise
MF
Jacquemin
Emmanuel
E
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
D001647:Bile Acids and Salts; D004247:DNA; D010088:Oxidoreductases; C051860:cholestenone 5 beta-reductase