Identification of a novel three-nucleotide insertion mutation (c.841-842insTGA) in the acid beta-glucosidase gene of a Taiwan Chinese patient with type II Gaucher disease

Hum Mutat. 2001 Mar;17(3):238. doi: 10.1002/humu.14.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Gaucher Disease / genetics*
  • Gaucher Disease / pathology
  • Glucosylceramidase / genetics*
  • Humans
  • Male
  • Mutagenesis, Insertional
  • Mutation
  • Mutation, Missense
  • Taiwan

Substances

  • DNA
  • Glucosylceramidase