VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality.

Abstract

BACKGROUND Germline mutations of the VHL gene cause von Hippel-Lindau syndrome (VHL). In southern Germany, a specific mutation in this gene, c.505 T>C, is one of the most frequent alterations owing to a founder effect. METHODS This study was conducted to evaluate morbidity, specific clinical risk profile, and mortality among a series of VHL c.505 T/C… (More)

Topics

6 Figures and Tables

Cite this paper

@article{Bender2001VHLCT, title={VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality.}, author={Bal{\'a}zs Bender and Christina H. Eng and M. Olschewski and Denise Berger and J{\"o}rg Laubenberger and Carsten Altehoefer and G{\"u}nter R Kirste and Miroslav Orszagh and Vera van Velthoven and H Miosczka and D. Schmidt and Hartmut P. H. Neumann}, journal={Journal of medical genetics}, year={2001}, volume={38 8}, pages={508-14} }