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Article

VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype.

European journal of human genetics : EJHG - 1 Sept 2014

Coppin Lucie, Grutzmacher Claudine, Crépin Michel, Destailleur Evelyne, Giraud Sophie, Cardot-Bauters Catherine, Porchet Nicole, Pigny Pascal

Abstract excerpt

The identification of Von Hippel-Lindau (VHL) mosaic mutations by conventional Sanger sequencing requires a labour-intensive enrichment step, thus explaining that mosaicism occurrence is underestimated in patients. Nowadays, it is possible to detect mutation in cell sub-populations by next-generation sequencing (NGS). Here, we described a diagnosis strategy using NGS with high coverage in a series of eight...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24301059
DOI: 10.1038/ejhg.2013.279
PMCID: PMC4135403

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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