Diagnostic pitfall in PCR-based alpha-thalassemia genotyping resulting from a (G->C) polymorphism at nucleotide 71 3' to the alpha2-globin gene termination codon

Clin Chem. 2006 Mar;52(3):536-7. doi: 10.1373/clinchem.2005.062547.
No abstract available

Publication types

  • Letter

MeSH terms

  • Asian People
  • Child
  • Codon, Terminator
  • Female
  • Genotype
  • Globins / genetics*
  • Humans
  • Infant
  • Male
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*
  • White People
  • alpha-Thalassemia / diagnosis*
  • alpha-Thalassemia / genetics

Substances

  • Codon, Terminator
  • Globins