IDUA gene mutations in mucopolysaccharidosis type-1 patients from two Pakistani inbred families

Congenit Anom (Kyoto). 2020 Jul;60(4):126-127. doi: 10.1111/cga.12354. Epub 2019 Aug 20.
No abstract available

MeSH terms

  • Consanguinity
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Iduronidase / chemistry
  • Iduronidase / genetics*
  • Male
  • Mucopolysaccharidosis I / epidemiology
  • Mucopolysaccharidosis I / genetics*
  • Mucopolysaccharidosis I / pathology
  • Mutation / genetics
  • Pakistan / epidemiology
  • Pedigree

Substances

  • IDUA protein, human
  • Iduronidase