Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene

J Med Genet. 2004 Jul;41(7):e98. doi: 10.1136/jmg.2003.018010.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Child
  • Chondroitinsulfatases / genetics*
  • CpG Islands / genetics
  • DNA / chemistry
  • DNA / genetics
  • DNA Methylation*
  • DNA Mutational Analysis / methods*
  • Female
  • Genetic Testing / methods
  • Genome, Human
  • Humans
  • Male
  • Mucopolysaccharidoses / diagnosis
  • Mucopolysaccharidoses / enzymology
  • Mucopolysaccharidoses / genetics*
  • Mutation / genetics*
  • Phenotype
  • Polymerase Chain Reaction / methods
  • Polymorphism, Single-Stranded Conformational

Substances

  • DNA
  • Chondroitinsulfatases
  • GALNS protein, human

Associated data

  • OMIM/253000