Article
Somatic mutations in VHL germline deletion kindred correlate with mild phenotype.
Annals of neurology - 1 Feb 2004
Wait Scott D, Vortmeyer Alexander O, Lonser Russell R, Chang David T, Finn Michael A, Bhowmick Deb A, Pack Svetlana D, Oldfield Edward H, Zhuang Zhengping
Abstract excerpt
Generally, von Hippel-Lindau (VHL) disease is caused by a germline mutation of the VHL gene (chromosome 3p), and tumorigenesis is initiated from a "second-hit" deletion. A subset of VHL patients have a germline deletion of the VHL gene, and the molecular events leading to tumorigenesis are not fully understood. To determine the molecular pathogenesis of tumor formation in this setting, we analyzed five central...
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