Article
Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease.
Chinese medical journal - 5 Jan 2015
Zhang Jingyao, Ma Jie, Du Xiaoyun, Wu Dapeng, Ai Hong, Bai Jigang, Dong Shunbin, Yang Qinling, Qu Kai, Lyu Yi, Valenzuela Robert K, Liu Chang
Abstract excerpt
BACKGROUND: Von Hippel-Lindau (VHL) disease is a hereditary tumor disorder caused by mutations or deletions of the VHL gene. Few studies have documented the clinical phenotype and genetic basis of the occurrence of VHL disease in China. This study armed to present clinical and genetic analyses of VHL within a five-generation VHL family from Northwestern China, and summarize the VHL mutations and clinical...
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