Gaucher type 2 disease: identification of a novel transversion mutation in a French-Irish patient

Am J Med Genet. 1998 Jun 16;78(1):92-3.
No abstract available

Publication types

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

MeSH terms

  • Aspartic Acid / genetics
  • Female
  • France
  • Gaucher Disease / genetics*
  • Glucosylceramidase / genetics*
  • Humans
  • Infant
  • Ireland
  • Lysine / genetics
  • Point Mutation*
  • Proline / genetics
  • Tyrosine / genetics

Substances

  • Aspartic Acid
  • Tyrosine
  • Proline
  • Glucosylceramidase
  • Lysine