Article
Molecular genetic analysis and mutation screening of the VHL gene in a Japanese family with von Hippel-Lindau disease.
The Kobe journal of medical sciences - 1 Aug 2000
Wu Y, Nishio H, Lee M J, Ayaki H, Hayashi A, Ooba T, Ogawa T, Sumino K
Abstract excerpt
Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited familial cancer syndrome which predisposes individuals to a variety of malignant and benign tumors. Its penetrance is almost 100% by 61-70 years of age. We have identified a germline mutation in the VHL gene of a Japanese male patient with a retinal hemangioma in the left eye, an intracranial hemangioblastoma, a left renal tumor and bilateral...
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