Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.

@article{Stolle1998ImprovedDO,
  title={Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.},
  author={Catherine Stolle and G. M. Glenn and Berton Zbar and John R. Humphrey and Peter L. Choyke and M Walther and Svetlana Pack and Katheen Hurley and C Andrey and Richard M. Klausner and W. Marston Linehan},
  journal={Human mutation},
  year={1998},
  volume={12 6},
  pages={417-23}
}
von Hippel-Lindau disease (VHL) is an inherited neoplastic disorder characterized by the development of tumors in the eyes, brain, spinal cord, inner ear, adrenal gland, pancreas, kidney, and epididymis. The VHL tumor suppressor gene was identified in 1993. Initial studies reported the detection of germline mutations in the VHL gene in 39-75% of VHL families. We used tests that detect different types of mutations to improve the frequency of detection of germline mutations in VHL families. The… CONTINUE READING
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