Novel missense mutation (Arg432Cys) in a patient with steroid sulphatase-deficiency

Clin Endocrinol (Oxf). 2003 Aug;59(2):263-4. doi: 10.1046/j.1365-2265.2003.17851.x.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arylsulfatases / deficiency*
  • Arylsulfatases / genetics*
  • Chromosomes, Human, X*
  • Female
  • Humans
  • Ichthyosis, X-Linked / genetics*
  • Male
  • Mutation, Missense*
  • Pedigree
  • Sequence Analysis, DNA
  • Steryl-Sulfatase

Substances

  • Arylsulfatases
  • Steryl-Sulfatase