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Article

Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population.

Annals of human genetics - 1 Jul 2011

Leonardi Emanuela, Martella Maddalena, Tosatto Silvio C E, Murgia Alessandra

Abstract excerpt

Mutational inactivation of the VHL gene is the cause of von Hippel-Lindau (VHL) disease, an autosomal dominant hereditary cancer syndrome predisposing to haemangioblastomas, pheochromocytomas and clear-cell renal carcinomas. The gene product (pVHL) functions as an adapter in cellular processes including cell growth and apoptosis. VHL mutation analysis was carried out in 426 unrelated subjects with phenotypes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21463266
DOI: 10.1111/j.1469-1809.2011.00647.x

Genes

VHL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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