A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)

Hum Mutat. 2000 Apr;15(4):389-90. doi: 10.1002/(SICI)1098-1004(200004)15:4<389::AID-HUMU31>3.0.CO;2-0.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Substitution / genetics
  • Arginine
  • Asian People / genetics
  • China / ethnology
  • Genes, Recessive / genetics
  • Germ-Line Mutation / genetics*
  • Glutamine
  • Humans
  • Mucopolysaccharidosis VI / enzymology
  • Mucopolysaccharidosis VI / genetics*
  • Mutation, Missense / genetics*
  • N-Acetylgalactosamine-4-Sulfatase / genetics
  • Syndrome
  • Taiwan / epidemiology

Substances

  • Glutamine
  • Arginine
  • N-Acetylgalactosamine-4-Sulfatase