A novel splice donor mutation in the thrombopoietin gene leads to exon 2 skipping in a Filipino family with hereditary thrombocythemia

Blood. 2011 Dec 22;118(26):6988-90. doi: 10.1182/blood-2011-10-386177.
No abstract available

Publication types

  • Letter

MeSH terms

  • Base Sequence
  • DNA Mutational Analysis
  • Exons / genetics
  • Family Health
  • Female
  • Humans
  • Male
  • Pedigree
  • Point Mutation*
  • RNA Splice Sites / genetics*
  • Thrombocytosis / blood
  • Thrombocytosis / genetics*
  • Thrombopoietin / blood
  • Thrombopoietin / genetics*

Substances

  • RNA Splice Sites
  • Thrombopoietin