Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.

doi:10.1002/humu.1380050109

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Article

Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.

Human mutation - 1 Jan 1995

Chen F, Kishida T, Yao M, Hustad T, Glavac D, Dean M, Gnarra J R, Orcutt M L, Duh F M, Glenn G

Abstract excerpt

von Hippel-Lindau disease (VHL) is an inherited neoplastic disease characterized by a predisposition to develop retinal angiomas, central nervous system hemangioblastomas, renal cell carcinomas, pancreatic cysts, and pheochromocytomas. The VHL gene was recently isolated by positional cloning. The...

Topics

Adrenal Gland Neoplasms
Base Sequence
DNA
DNA Mutational Analysis
DNA Primers
Female
Genes, Tumor Suppressor
Genotype
Germ-Line Mutation
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Pheochromocytoma

Point Mutation

Polymerase Chain Reaction

Polymorphism, Genetic

von Hippel-Lindau Disease

Source

Open in PubMed

Identifiers

PMID: 7728151
DOI: 10.1002/humu.1380050109

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7728151-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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