Article
Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations.
Human mutation - 1 Feb 2004
Ruiz-Llorente Sergio, Bravo Jerónimo, Cebrián Arancha, Cascón Alberto, Pollan Marina, Tellería Dolores, Letón Rocío, Urioste Miguel, Rodríguez-López Raquel, de Campos Jose M, Muñoz María J, Lacambra Carmen, Benítez Javier, Robledo Mercedes
Abstract excerpt
Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome caused by germline mutations in the VHL gene. This gene, located in the 3p25-26 chromosome, is a tumor suppressor gene associated with the inhibition of angiogenesis and apoptosis, cell cycle exit, fibronectin matrix assembly, and proteolysis. To define the molecular basis of VHL in a Spanish population, we studied 33 patients suspected of suffering...
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