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- URN zum Zitieren dieses Dokuments:
- urn:nbn:de:bvb:355-epub-358282
- DOI zum Zitieren dieses Dokuments:
- 10.5283/epub.35828
Alternative Links zum Volltext:Pubmed
Zusammenfassung
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 ...
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