A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis

Hum Mutat. 2001 Sep;18(3):254. doi: 10.1002/humu.1187.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Base Sequence
  • Child
  • Chondroitinsulfatases / genetics*
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Exons / genetics
  • Follow-Up Studies
  • Humans
  • Male
  • Mucopolysaccharidosis IV / enzymology
  • Mucopolysaccharidosis IV / genetics*
  • Mucopolysaccharidosis IV / pathology
  • Mutation
  • Open Reading Frames / genetics
  • Sequence Deletion*
  • Taiwan

Substances

  • DNA
  • Chondroitinsulfatases
  • GALNS protein, human