Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency

Hum Mutat. 1994;4(1):76-8. doi: 10.1002/humu.1380040114.
No abstract available

Publication types

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

MeSH terms

  • Arylsulfatases / deficiency*
  • Arylsulfatases / genetics*
  • Base Sequence
  • Chromosomes, Artificial, Yeast
  • Cloning, Molecular
  • DNA Primers / genetics
  • Genetic Markers
  • Humans
  • Ichthyosis, X-Linked / enzymology
  • Ichthyosis, X-Linked / genetics
  • Intellectual Disability / genetics
  • Male
  • Molecular Sequence Data
  • Sequence Deletion*
  • Steryl-Sulfatase
  • X Chromosome

Substances

  • DNA Primers
  • Genetic Markers
  • Arylsulfatases
  • Steryl-Sulfatase

Associated data

  • GENBANK/S74383