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Article

VHL P25L is not a pathogenic von Hippel-Lindau mutation: a family study.

Molecular diagnosis & therapy - 1 Jan 2006

Pettman Rachel K, Crowley Amy, Riddell Christie, Ludman Mark D

Abstract excerpt

BACKGROUND: von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome in which affected individuals may develop CNS and retinal hemangioblastomas, pheochromocytomas, renal cell carcinoma, and cysts of various organs. The VHL gene has been localized to chromosome 3p25-26 and >500 germline mutations have been identified. A rare variant of the VHL gene results in the substitution of lysine for proline at...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16884327
DOI: 10.1007/BF03256462

Genes

VHL

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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