A novel GATA1 mutation (Stop414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype and mild macrothrombocytic thrombocytopenia

Br J Haematol. 2013 Apr;161(1):139-42. doi: 10.1111/bjh.12184. Epub 2012 Dec 24.
No abstract available

Publication types

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

MeSH terms

  • Aged
  • Amino Acid Sequence
  • Base Sequence
  • Blood Platelets / ultrastructure
  • Cell Adhesion Molecules / genetics
  • Female
  • GATA1 Transcription Factor / genetics*
  • Genetic Diseases, X-Linked / genetics*
  • Humans
  • Lutheran Blood-Group System / genetics
  • Male
  • Microscopy, Electron
  • Molecular Sequence Data
  • Mutation, Missense*
  • Phenotype
  • Sequence Alignment
  • Thrombocytopenia / genetics*

Substances

  • BCAM protein, human
  • Cell Adhesion Molecules
  • GATA1 Transcription Factor
  • GATA1 protein, human
  • Lutheran Blood-Group System

Supplementary concepts

  • Macrothrombocytopenia, X-Linked