Article
Genetic analysis of von Hippel-Lindau disease.
Human mutation - 1 May 2010
Nordstrom-O'Brien Morgan, van der Luijt Rob B, van Rooijen Ellen, van den Ouweland Ans M, Majoor-Krakauer Danielle F, Lolkema Martijn P, van Brussel Aram, Voest Emile E, Giles Rachel H
Abstract excerpt
Mutations in the von Hippel-Lindau (VHL) gene are responsible for VHL disease, congenital polycythemia, and are found in many sporadic tumor types as well. Reports of VHL mutations are dispersed throughout original articles and databases that have not been recently updated. We compiled a comprehensive mutation table of 1,548 germline and somatic VHL mutations, derived from this protein of only 213 amino acids. We...
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