Genetic study of a large Chinese kindred with von Hippel-Lindau disease.

@article{Huang2004GeneticSO,
  title={Genetic study of a large Chinese kindred with von Hippel-Lindau disease.},
  author={Yiran Huang and Jin Zhang and Jing-ding Wang and Xiao-dong Fan},
  journal={Chinese medical journal},
  year={2004},
  volume={117 4},
  pages={552-7}
}
BACKGROUND Von Hippel-Lindau (VHL) disease is a heraditary cancer syndrome caused by germline mutations of the VHL tumor on the suppressor gene. This study was to show the clinical characteristics of a large Chinese kindred with von Hippel-Lindau disease and to evaluate the role of the genetic test of VHL disease in the diagnosis of VHL disease and clinical screening of members of the VHL disease family. METHODS DNA extracted from peripheral blood was amplified by PCR to three exons of the… CONTINUE READING