Mucopolysaccharidosis IVA (Morquio A): three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase gene

Hum Mutat. 1996;8(2):187-90. doi: 10.1002/(SICI)1098-1004(1996)8:2<187::AID-HUMU14>3.0.CO;2-Z.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Chondroitinsulfatases / genetics*
  • Gene Deletion*
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • Mucopolysaccharidosis IV / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational

Substances

  • Chondroitinsulfatases
  • GALNS protein, human