Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients

Hum Mutat. 1996;7(3):272-4. doi: 10.1002/(SICI)1098-1004(1996)7:3<272::AID-HUMU14>3.0.CO;2-#.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Cells, Cultured
  • DNA Primers
  • Exons
  • Gaucher Disease / genetics*
  • Genetic Testing
  • Genotype
  • Glucosylceramidase / chemistry
  • Glucosylceramidase / deficiency
  • Glucosylceramidase / genetics*
  • Heterozygote
  • Homozygote
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Protein Structure, Secondary
  • Spain

Substances

  • DNA Primers
  • Glucosylceramidase