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Article

Mutation of the Von Hippel-Lindau tumour suppressor gene in capillary haemangioblastomas of the central nervous system.

The Journal of pathology - 1 Jun 1996

Oberstrass J, Reifenberger G, Reifenberger J, Wechsler W, Collins V P

Abstract excerpt

A series of 20 capillary haemangioblastomas of the central nervous system was screened for mutations of the von Hippel-Lindau (VHL) tumour suppressor gene by single strand conformational polymorphism (SSCP) and heteroduplex analysis. Aberrant polymerase chain reaction (PCR) products were detected in ten tumours. DNA sequencing of these PCR products revealed that seven tumours had frameshift mutations due either...

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Source

Identifiers

PMID: 8758206
DOI: 10.1002/(sici)1096-9896(199606)179:2<151::aid-path556>3.0.co;2-0

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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Mutation of the Von Hippel-Lindau tumour suppressor gene in capillary haemangioblastomas of the central nervous system.PMID 8758206Read ↗

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Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.Semantic proximity Read ↗

Intronic mutation of the VHL gene associated with central nervous system hemangioblastomas in two Chinese families with Von Hippel-Lindau disease: case report.Semantic proximity Read ↗

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