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Article

Detailed mapping of germline deletions of the von Hippel-Lindau disease tumour suppressor gene.

Human molecular genetics - 1 Apr 1994

Richards F M, Crossey P A, Phipps M E, Foster K, Latif F, Evans G, Sampson J, Lerman M I, Zbar B, Affara N A

Abstract excerpt

Von Hippel-Lindau disease is a dominantly inherited familial cancer syndrome characterised by the development of retinal angiomatosis, cerebellar and spinal hemangioblastoma, renal cell carcinoma, phaeochromocytoma and pancreatic tumours. A cDNA (g7) which detects frequent genomic rearrangements...

Topics

Amino Acid Sequence
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 3
DNA, Complementary
DNA, Neoplasm
Exons
Female
Genes, Tumor Suppressor
Genotype
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Pedigree

Phenotype

Sequence Deletion

von Hippel-Lindau Disease

Source

Identifiers

PMID: 8069305
DOI: 10.1093/hmg/3.4.595

Genes

VHL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8069305-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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