Characterization of a novel p.S305P and a known c.1006+5G>C splice site mutation in human iduronate-2-sulfatase associated with mucopolysaccharidosis type II

Clin Chim Acta. 2007 Sep;384(1-2):167-70. doi: 10.1016/j.cca.2007.06.014. Epub 2007 Jun 28.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Animals
  • COS Cells
  • Chlorocebus aethiops
  • Glycoproteins / analysis
  • Glycoproteins / genetics*
  • Humans
  • Male
  • Mucopolysaccharidosis II / enzymology
  • Mucopolysaccharidosis II / genetics*
  • Mutation
  • RNA Splice Sites / genetics*
  • Taiwan

Substances

  • Glycoproteins
  • IDS protein, human
  • RNA Splice Sites