Article
Novel Homozygous Mutation of the Internal Translation Initiation Start Site of VHL is Exclusively Associated with Erythrocytosis: Indications for Distinct Functional Roles of von Hippel-Lindau Tumor Suppressor Isoforms.
Human mutation - 1 Nov 2015
Bartels Marije, van der Zalm Marieke M, van Oirschot Brigitte A, Lee Frank S, Giles Rachel H, Kruip Marieke J H A, Gitz-Francois Jerney J J M, Van Solinge Wouter W, Bierings Marc, van Wijk Richard
Abstract excerpt
Congenital secondary erythrocytosis is a rare disorder characterized by increased red blood cell production. An important cause involves defects in the oxygen sensing pathway, in particular the PHD2-VHL-HIF axis. Mutations in VHL are also associated with the von Hippel-Lindau tumor predisposition syndrome. The differences in phenotypic expression of VHL mutations are poorly understood. We report on three patients...
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