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Article

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

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Nov 2001

Allen R C, Webster A R, Sui R, Brown J, Taylor C M, Stone E M

Abstract excerpt

BACKGROUND: Von Hippel-Lindau (VHL) disease is a dominantly inherited cancer syndrome. Since the identification of the VHL gene, at least 3 clinical-genetic subtypes of the disease have been recognized. OBJECTIVES: To identify the specific abnormality in the VHL gene and to correlate it with the...

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Identifiers

PMID: 11709017
DOI: 10.1001/archopht.119.11.1659

Genes

VHL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11709017-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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