Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia

Br J Haematol. 2013 Sep;162(6):851-3. doi: 10.1111/bjh.12431. Epub 2013 Jun 17.
No abstract available

Keywords: erythrocytosis; genetics; molecular haematology; mutations; polycythaemia.

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adolescent
  • Child
  • Female
  • Heterozygote
  • Humans
  • Male
  • Polycythemia / congenital*
  • Polycythemia / genetics
  • Von Hippel-Lindau Tumor Suppressor Protein / genetics*

Substances

  • Von Hippel-Lindau Tumor Suppressor Protein
  • VHL protein, human