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Article

A mouse model for Sorsby fundus dystrophy

1 Jan 2002

Abstract excerpt

PURPOSE: Sorsby fundus dystrophy (SFD) is a rare, late-onset macular dystrophy caused by mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) gene. The known mutations introduce potentially unpaired cysteine residues in the C terminus of the protein and result in the formation of higher-molecular-weight protein complexes of as yet unknown composition and functional consequences in the pathologic...

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PMID: 12147610
DOI: 10.5283/epub.35828

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A mouse model for Sorsby fundus dystrophyPMID 12147610Read ↗

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