Novel missense mutation (Y231C) in a turkish patient with canavan disease

Am J Med Genet. 1999 Nov 26;87(3):273-5. doi: 10.1002/(sici)1096-8628(19991126)87:3<273::aid-ajmg17>3.0.co;2-o.
No abstract available

Publication types

  • Case Reports
  • Comment
  • Letter

MeSH terms

  • Amidohydrolases / deficiency
  • Amidohydrolases / genetics*
  • Amino Acid Substitution
  • Canavan Disease / genetics*
  • Consanguinity
  • Female
  • Humans
  • Infant, Newborn
  • Muscle Hypotonia / genetics
  • Mutation, Missense*
  • Turkey

Substances

  • Amidohydrolases
  • aspartoacylase