Article
Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients.
Human mutation - 1 May 2009
Franke Gerlind, Bausch Birke, Hoffmann Michael M, Cybulla Markus, Wilhelm Christian, Kohlhase Jürgen, Scherer Gerd, Neumann Hartmut P H
Abstract excerpt
Von Hippel-Lindau disease (VHL) is an autosomal dominant cancer syndrome. Affected individuals are predisposed to multiple tumors, primarily of the central nervous system (CNS), eyes, adrenals, and kidneys. The VHL tumor suppressor gene on chromosome 3p26-25 is partially or completely deleted in 20 to 30% of families with VHL. We identified deletions ranging from 0.5 kb to 250 kb affecting part of or the entire...
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