Rare compound heterozygosity for IVS2 +1G>A and R170P in an Italian patient with Gaucher disease type 1

Clin Genet. 2003 Sep;64(3):261-2. doi: 10.1034/j.1399-0004.2003.00129.x.
No abstract available

Publication types

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

MeSH terms

  • Alleles
  • Amino Acid Substitution
  • Child
  • Exons / genetics
  • Gaucher Disease / genetics*
  • Gaucher Disease / pathology
  • Genotype
  • Glucosylceramidase / chemistry
  • Glucosylceramidase / genetics*
  • Heterozygote*
  • Humans
  • Introns / genetics
  • Italy
  • Male
  • Mutation, Missense*
  • Pain / genetics
  • Point Mutation*
  • Polymorphism, Single-Stranded Conformational
  • RNA Splice Sites / genetics*
  • Skin Pigmentation / genetics

Substances

  • RNA Splice Sites
  • Glucosylceramidase