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Article

A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy.

American journal of ophthalmology - 1 Nov 2006

Lin Ruth J, Blumenkranz Mark S, Binkley Jonathan, Wu Kathy, Vollrath Douglas

Abstract excerpt

PURPOSE: To describe the phenotype and genotype of a family with suspected Sorsby fundus dystrophy (SFD). DESIGN: Case reports and results of deoxyribonucleic acid (DNA) analysis. METHODS: Clinical features were determined by complete ophthalmologic examination or by review of medical records. Mutational analysis of the tissue inhibitor of metalloproteinase (TIMP)3 gene was performed by DNA resequencing....

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Source

Identifiers

PMID: 16989765
DOI: 10.1016/j.ajo.2006.06.003

Genes

TIMP3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy.PMID 16989765Read ↗

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