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Evaluation of the gene encoding the tissue inhibitor of metalloproteinases-3 in various maculopathies

URN to cite this document:
urn:nbn:de:bvb:355-epub-354767
DOI to cite this document:
10.5283/epub.35476
Felbor, U. ; Doepner, D. ; Schneider, U. ; Zrenner, E. ; Weber, Bernhard H. F.
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Date of publication of this fulltext: 07 Apr 2017 08:39


Abstract

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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