A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI

Chin Med J (Engl). 2004 Dec;117(12):1850-2.
No abstract available

MeSH terms

  • Child
  • Female
  • Humans
  • Male
  • Mucopolysaccharidosis IV / genetics*
  • Mutation*
  • N-Acetylgalactosamine-4-Sulfatase / genetics*

Substances

  • N-Acetylgalactosamine-4-Sulfatase