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Article

Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.

Journal of medical genetics - 1 Aug 1996

Chen F, Slife L, Kishida T, Mulvihill J, Tisherman S E, Zbar B

Abstract excerpt

A family with von Hippel-Lindau disease (VHL) type 2A has been shown to have a T to C missense mutation at nucleotide 547 of the VHL gene. This gives further support for the proposal to associate the 547 T to C mutation with phenotype VHL 2A.

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Source

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Identifiers

PMID: 8863170
DOI: 10.1136/jmg.33.8.716
PMCID: PMC1050712

Genes

VHL

Provenance

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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Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.PMID 8863170Read ↗

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Genotype-phenotype correlations in von Hippel-Lindau disease.Semantic proximity Read ↗

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Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations.Semantic proximity Read ↗

Genotype-phenotype correlation in ocular von Hippel-Lindau (VHL) disease: the effect of missense mutation position on ocular VHL phenotype.Semantic proximity Read ↗

Molecular analysis of two uncharacterized sequence variants of the VHL gene.Semantic proximity Read ↗

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Molecular characterization and ophthalmic investigation of a large family with type 2A Von Hippel-Lindau Disease.Semantic proximity Read ↗

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