A novel FUCA1 mutation causing fucosidosis in a Chinese boy

J Inherit Metab Dis. 2002 Sep;25(5):415-6. doi: 10.1023/a:1020116220624.

Abstract

We report a 6-year-old boy with an intermediate form of fucosidosis.

Publication types

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

MeSH terms

  • Base Sequence
  • Child
  • Codon, Nonsense
  • Fucosidosis / genetics*
  • Humans
  • Male
  • Polymerase Chain Reaction
  • alpha-L-Fucosidase / genetics

Substances

  • Codon, Nonsense
  • alpha-L-Fucosidase