Article
Genotype-phenotype correlations in Chinese von Hippel-Lindau disease patients.
Oncotarget - 13 Jun 2017
Peng Shuanghe, Shepard Matthew J, Wang Jiangyi, Li Teng, Ning Xianghui, Cai Lin, Zhuang Zhengping, Gong Kan
Abstract excerpt
von Hippel-Lindau (VHL) disease is caused by mutations in the VHL gene and demonstrates marked phenotypic variability. Genotype-phenotype correlations in Chinese VHL patients have been unclear. To establish genotype-phenotype correlations in Chinese VHL patients, we collected VHL mutations and phenotypes of 291 patients with VHL disease from 115 unrelated families. Genotype-phenotype correlations at mutation type...
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