A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient

Hum Mol Genet. 1994 Nov;3(11):2065-6.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Female
  • Fucosidosis / genetics*
  • Humans
  • Infant
  • Italy
  • Molecular Sequence Data
  • Mutation*
  • Polymerase Chain Reaction
  • alpha-L-Fucosidase / genetics*

Substances

  • alpha-L-Fucosidase