A novel homozygous point mutation at codon 82 (HBB:c.247A > T) in the beta-globin gene leads to thalassemia major

Int J Lab Hematol. 2010 Oct;32(5):548-9. doi: 10.1111/j.1751-553X.2009.01217.x. Epub 2010 Feb 2.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Female
  • Homozygote
  • Humans
  • Point Mutation
  • beta-Globins / genetics*
  • beta-Thalassemia / genetics*

Substances

  • beta-Globins