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Molecular dissection of TIMP3 mutation S156C associated with Sorsby fundus dystrophy

Fogarasi, Marton, Janssen, A., Weber, Bernhard H. F. and Stöhr, Heidi (2008) Molecular dissection of TIMP3 mutation S156C associated with Sorsby fundus dystrophy. Matrix Biology 27, pp. 381-392.

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Abstract

Sorsby fundus dystrophy (SFD) is an autosomal dominant macular degeneration of late onset. A key feature of the disease is the thickening of Bruch's membrane, an ECM structure located between the RPE and the choroid. SFD is caused by mutations in the gene encoding the ECM-associated tissue inhibitor of metalloproteases-3 (TIMP3). We have recently generated two Timp3 gene-targeted mouse lines, one ...

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Item type:Article
Date:2008
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1016/j.matbio.2008.01.008DOI
18295466PubMed ID
Keywords:Sorsby fundus dystrophy; Tissue inhibitor of metalloproteases-3 (TIMP3); Timp3 gene-targeted mice; Protease activity; Angiogenesis
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Yes
Item ID:35224
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