VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality
نویسندگان
چکیده
منابع مشابه
VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality.
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 mutation carriers. A total of 125 eligible...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2001
ISSN: 1468-6244
DOI: 10.1136/jmg.38.8.508