Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene

@article{Hes2000GenotypephenotypeCI,
  title={Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene},
  author={Frederik J Hes and Richard A. Zewald and Ton P W Peeters and Rolf Sijmons and Thera P. Links and Joke B. G. M. Verheij and Gert Matthijs and Eric Legius and Geert Mortier and Kors van der Torren and Malou Rosman and C. J. Lips and Peter Pearson and Rob B. van der Luijt},
  journal={Human Genetics},
  year={2000},
  volume={106},
  pages={425-431}
}
Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome characterized by predisposition for bilateral and multi-centric hemangioblastoma in the retina and central nervous system, pheochromocytoma, renal cell carcinoma, and cysts in the kidney, pancreas, and epididymis. We describe five families for which direct sequencing of the coding region of the VHL gene had failed to identify the family-specific mutation. Further molecular analysis revealed deletions involving the VHL gene in each… CONTINUE READING

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Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function

  • CE Stebbins, WG JrKaelin, NP Pavletich
  • Science
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Highly Influential
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