Article
Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC.
Human mutation - 1 Jan 1999
Gallou C, Joly D, Méjean A, Staroz F, Martin N, Tarlet G, Orfanelli M T, Bouvier R, Droz D, Chrétien Y, Maréchal J M, Richard S, Junien C, Béroud C
Abstract excerpt
To investigate the nature of somatic von Hippel-Lindau (VHL) mutations, we analyzed 173 primary sporadic human renal cell carcinomas for mutations of the VHL tumor suppressor gene, using polymerase chain reaction (PCR) and single-strand conformational polymorphism analysis (SSCP) of DNA. We detected abnormal SSCP pattern in 73 samples. After sequencing, we identified microdeletions in 58% of cases,...
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