Article
[Results of mutation analyses of von Hippel-Lindau disease gene in Japanese patients: comparison with results in United States and United Kingdom].
Hinyokika kiyo. Acta urologica Japonica - 1 Sept 1995
Shuin T, Kondo K, Kaneko S, Sakai N, Yao M, Hosaka M, Kanno H, Ito S, Yamamoto I
Abstract excerpt
Recently the gene responsible for the von Hippel-Lindau (VHL) disease was identified as a tumor suppressor gene. Our ongoing studies on the mutation of the VHL gene in Japanese 28 VHL families with single strand conformational analyses of DNA and Southern blot analyses revealed 6 cases of insertion or deletion, 1 cases of splice site mutation and 9 cases of missense mutation, and 3 possible intragenic deletions....
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