Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1

Ann Hematol. 2014 Oct;93(10):1787-9. doi: 10.1007/s00277-014-2036-x. Epub 2014 Feb 28.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Amino Acid Substitution*
  • Child, Preschool
  • Consanguinity
  • Conserved Sequence
  • Enzyme Replacement Therapy
  • Female
  • Gaucher Disease / complications
  • Gaucher Disease / drug therapy
  • Gaucher Disease / genetics*
  • Gaucher Disease / pathology
  • Glucosylceramidase / genetics*
  • Glucosylceramidase / therapeutic use
  • Hepatomegaly / etiology
  • Heterozygote
  • Histiocytes / pathology
  • Humans
  • Iran / ethnology
  • Male
  • Mutation, Missense*
  • Phenotype
  • Point Mutation*
  • Recombinant Proteins / therapeutic use
  • Splenectomy
  • Splenomegaly / etiology
  • Splenomegaly / surgery
  • Young Adult

Substances

  • Recombinant Proteins
  • Glucosylceramidase
  • imiglucerase