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Article

Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Mar 2002

Jacobson Samuel G, Cideciyan Artur V, Bennett Jean, Kingsley Ronald M, Sheffield Val C, Stone Edwin M

Abstract excerpt

OBJECTIVE: To determine the molecular basis of a retinopathy previously described as dominant macular subretinal neovascularization with peripheral retinal degeneration. METHODS: The TIMP3 gene was analyzed in family members, and 4 mutation-positive patients were studied using psychophysics and electroretinography. RESULTS: Cosegregating with disease in the family was a single base pair change in the TIMP3 gene,...

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Source

Identifiers

PMID: 11879143
DOI: 10.1001/archopht.120.3.376

Genes

TIMP3

Variants

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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