Software and database for the analysis of mutations in the VHL gene

@article{Broud1998SoftwareAD,
  title={Software and database for the analysis of mutations in the VHL gene},
  author={Christophe B{\'e}roud and Dominique Joly and Catherine Gallou and Fr{\'e}d{\'e}ric Staroz and Marie Th{\'e}r{\`e}se Orfanelli and Claudine Junien},
  journal={Nucleic acids research},
  year={1998},
  volume={26 1},
  pages={256-8}
}
VHL is a tumor suppressor gene localized on chromosome 3p25-26. Mutations of the VHL gene were described at first in the heritable von Hippel-Lindau disease and in the sporadic Renal Cell Carcinoma (RCC). More recently, VHL has also been shown to harbor mutations in mesothelioma and small cell lung carcinoma. To date more than 500 mutations have been identified. These mutations are mainly private with only one hot spot at codon 167 associated with pheochromocytoma. The germline mutations are… CONTINUE READING