Annotation error of a common β°-thalassemia mutation (619 bp-deletion) has implications for molecular diagnosis

Am J Hematol. 2010 Dec;85(12):978. doi: 10.1002/ajh.21875.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Databases, Nucleic Acid / standards
  • Diagnostic Errors*
  • Female
  • Genetic Testing
  • Humans
  • Molecular Sequence Annotation / standards*
  • Sequence Deletion*
  • beta-Thalassemia / diagnosis*
  • beta-Thalassemia / genetics