Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus

Blood. 2013 Nov 28;122(23):3845-7. doi: 10.1182/blood-2013-09-528315.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, Pair 6 / genetics
  • Female
  • Fetal Hemoglobin / metabolism
  • GTP-Binding Proteins / genetics
  • Genes, myb
  • Genome-Wide Association Study
  • HSP70 Heat-Shock Proteins / genetics
  • Hematologic Diseases / blood
  • Hematologic Diseases / genetics*
  • Humans
  • Mutation
  • Peptide Elongation Factors / genetics
  • Phenotype

Substances

  • HSP70 Heat-Shock Proteins
  • Peptide Elongation Factors
  • Fetal Hemoglobin
  • GTP-Binding Proteins
  • HBS1L protein, human