A novel splice site mutation in intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA

Hum Mol Genet. 1994 Aug;3(8):1427-8. doi: 10.1093/hmg/3.8.1427.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chondroitinsulfatases / genetics*
  • Humans
  • Introns / genetics*
  • Japan
  • Molecular Sequence Data
  • Mucopolysaccharidosis IV / genetics*
  • Pedigree
  • Point Mutation / genetics*
  • Polymerase Chain Reaction

Substances

  • Chondroitinsulfatases