Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy

Hum Mutat. 1998:Suppl 1:S254-6. doi: 10.1002/humu.1380110181.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Amino Acid Substitution
  • Animals
  • COS Cells
  • Cerebroside-Sulfatase / genetics*
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Female
  • Humans
  • Leukodystrophy, Metachromatic / enzymology
  • Leukodystrophy, Metachromatic / genetics*
  • Male
  • Mutation
  • Point Mutation
  • Polymorphism, Single-Stranded Conformational

Substances

  • DNA
  • Cerebroside-Sulfatase