SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect

J Hepatol. 2004 Apr;40(4):716-8. doi: 10.1016/j.jhep.2003.12.024.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Base Sequence
  • Bile Acids and Salts / metabolism
  • DNA / genetics
  • DNA Mutational Analysis
  • Diseases in Twins / genetics*
  • Exons
  • Female
  • Heterozygote
  • Humans
  • Infant
  • Liver Failure / enzymology
  • Liver Failure / genetics
  • Metabolism, Inborn Errors / enzymology*
  • Metabolism, Inborn Errors / genetics*
  • Oxidoreductases / deficiency*
  • Oxidoreductases / genetics*
  • Point Mutation
  • Twins, Monozygotic

Substances

  • Bile Acids and Salts
  • DNA
  • Oxidoreductases
  • cholestenone 5 beta-reductase