Why the disorder induced by GATA1 Arg216Gln mutation should be called "X-linked thrombocytopenia with thalassemia" rather than "X-linked gray platelet syndrome"

Blood. 2007 Oct 1;110(7):2770-1; author reply 2771. doi: 10.1182/blood-2007-03-080978.
No abstract available

Publication types

  • Comment
  • Letter

MeSH terms

  • Arginine / genetics
  • Arginine / metabolism
  • Blood Platelets / pathology*
  • GATA1 Transcription Factor / genetics*
  • GATA1 Transcription Factor / metabolism
  • Genes, X-Linked / genetics*
  • Glutamine / genetics
  • Glutamine / metabolism
  • Humans
  • Mutation / genetics*
  • Syndrome
  • Terminology as Topic*
  • Thalassemia / classification
  • Thalassemia / complications*
  • Thalassemia / genetics
  • Thrombocytopenia / classification
  • Thrombocytopenia / complications*
  • Thrombocytopenia / genetics*

Substances

  • GATA1 Transcription Factor
  • GATA1 protein, human
  • Glutamine
  • Arginine