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- URN zum Zitieren dieses Dokuments:
- urn:nbn:de:bvb:355-epub-354767
- DOI zum Zitieren dieses Dokuments:
- 10.5283/epub.35476
Zusammenfassung
Purpose. Mutations in the gene encoding the tissue inhibitor of metalloproteinases-3 (TIMP3) have been shown previously to cause Sorsby's fundus dystrophy, an autosomal-dominant disorder characterized by extracellular matrix irregularities in Bruch's membrane. To assess the involvement of TIMP3 in a variety of other macular dystrophies, the authors have screened this gene for disease-causing ...
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