Clinical utility gene card for: mucopolysaccharidosis type II

Eur J Hum Genet. 2012 Jan;20(1). doi: 10.1038/ejhg.2011.143. Epub 2011 Aug 24.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Diagnosis, Differential
  • Female
  • Genetic Testing / methods*
  • Genotype
  • Glycoproteins / genetics*
  • Humans
  • Male
  • Mucopolysaccharidosis II / diagnosis*
  • Mucopolysaccharidosis II / epidemiology
  • Mucopolysaccharidosis II / genetics
  • Point Mutation
  • Prevalence
  • Sensitivity and Specificity

Substances

  • Glycoproteins
  • IDS protein, human