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Article

Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma.

Clinical genetics - 1 Jun 2011

Sorrell A D, Lee S, Stolle C, Ellenhorn J, Grix A, Kaelin W G, Weitzel J N

Abstract excerpt

This report describes clinical characteristics in families with a Type 2A phenotype and functional properties of a novel von Hippel Lindau variant (X214L). Pedigrees were analyzed. Analysis of von Hippel Lindau (VHL) coding exons and flanking intronic sequences in DNA from a proband with pheochromocytoma and islet cell tumor was performed. Western blot assays for VHL protein (pVHL), HIFα, and Jun B were conducted...

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Share to Carcinoma, Renal Cell
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypoxia-Inducible Factor 1, alpha Subunit

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Source

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Identifiers

PMID: 20560986
DOI: 10.1111/j.1399-0004.2010.01464.x
PMCID: PMC2958253

Genes

VHL

Variants

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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