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Article

Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene

1 Nov 1995

Abstract excerpt

VHL disease is a dominantly inherited familial cancer syndrome with variable expression and age-dependent penetrance. The diagnosis of isolated cases is often delayed compared with familial cases, and estimates of the new mutation rate have varied more than 20-fold. To investigate the frequency and origin of de novo VHL gene mutations we have analysed: (i) families with identical mutations to determine if there...

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Identifiers

PMID: 8589692
DOI: 10.1093/hmg/4.11.2139

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Source receipt: pubmed, retrieved 7 Sept 2026.

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