Defective mRNA levels are responsible for a beta-thalassemia phenotype associated with Hb Federico II, a novel hemoglobin variant [beta-106 (G8) Leu->Val]

Haematologica. 2008 Jul;93(7):1096-8. doi: 10.3324/haematol.11722.
No abstract available

Publication types

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

MeSH terms

  • Codon
  • Female
  • Hemoglobins / metabolism
  • Hemoglobins, Abnormal / genetics*
  • Heterozygote
  • Humans
  • Leucine / chemistry
  • Male
  • Models, Genetic
  • Mutation*
  • Pedigree
  • Phenotype
  • Sequence Analysis, DNA
  • Valine / chemistry
  • beta-Thalassemia / diagnosis*
  • beta-Thalassemia / genetics*

Substances

  • Codon
  • Hemoglobins
  • Hemoglobins, Abnormal
  • Leucine
  • Valine