Metachromatic leukodystrophy: a novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation

Hum Mutat. 2000 Oct;16(4):375-6. doi: 10.1002/1098-1004(200010)16:4<375::AID-HUMU21>3.0.CO;2-C.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Substitution / genetics*
  • Cerebroside-Sulfatase / genetics
  • Haplotypes / genetics*
  • Humans
  • Leucine / genetics
  • Leukodystrophy, Metachromatic / enzymology
  • Leukodystrophy, Metachromatic / genetics*
  • Mutation, Missense / genetics*
  • Proline / genetics
  • Sequence Deletion

Substances

  • Proline
  • Cerebroside-Sulfatase
  • Leucine