Article
Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis.
Haematologica - 1 Jan 2005
Cario Holger, Schwarz Klaus, Jorch Norbert, Kyank Ulrike, Petrides Petro E, Schneider Dominik T, Uhle Renate, Debatin Klaus-Michael, Kohne Elisabeth
Abstract excerpt
BACKGROUND AND OBJECTIVES: Congenital erythrocytoses or polycythemias are rare and heterogeneous. A homozygous mutation (C598T->Arg200Trp) in the von Hippel-Lindau (VHL) gene was originally identified as the cause of the endemic Chuvash polycythemia. Subsequently this and other mutations in the VHL gene were also detected in several patients of different ethnic origin. Haplotype analyses of the VHL gene suggested...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.