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Article

Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

1 Dec 1994

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 7894485
DOI: 10.1038/ng1294-352

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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.

Related research

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Research trail→

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Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophyPMID 7894485Read ↗

A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features.Semantic proximity Read ↗

A novel mutation at the N-terminal domain of the TIMP3 gene in Sorsby fundus dystrophy.Semantic proximity Read ↗

Tissue inhibitor of metalloproteinases-3 and Sorsby fundus dystrophy.Semantic proximity Read ↗

Review: Mechanisms of TIMP-3 accumulation and pathogenesis in Sorsby fundus dystrophy.Semantic proximity Read ↗

Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.Semantic proximity Read ↗

TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights.Semantic proximity Read ↗

Clinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: implications for disease mechanism.Semantic proximity Read ↗

A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby's fundus dystrophy with unusual clinical features.Semantic proximity Read ↗

Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes.Semantic proximity Read ↗

A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy.Semantic proximity Read ↗

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

Sorsby fundus dystrophy: Insights from the past and looking to the future.Semantic proximity Read ↗

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