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Article

Molecular analysis of two uncharacterized sequence variants of the VHL gene.

Journal of human genetics - 1 Jan 2006

Martella Maddalena, Salviati Leonardo, Casarin Alberto, Trevisson Eva, Opocher Giuseppe, Polli Roberta, Gross David, Murgia Alessandra

Abstract excerpt

Mutations in the VHL gene cause von Hippel-Lindau disease, a cancer predisposing syndrome characterized by a variety of benign and malignant neoplasms. We report the molecular characterization of two sequence variants of the VHL gene: a synonymous substitution c.462 A>C in exon 2 and a duplication of 11 bp in the promoter region (c.-65_-55dup11). The first variant is a pathogenic mutation because, although it...

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Source

Identifiers

PMID: 17006605
DOI: 10.1007/s10038-006-0054-9

Genes

VHL

Provenance

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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