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Sorsby fundus dystrophy mutation Timp3(S156C) affects the morphological and biochemical phenotype but not metalloproteinase homeostasis

Soboleva, G, Geis, B, Schrewe, H and Weber, Bernhard H. F. (2003) Sorsby fundus dystrophy mutation Timp3(S156C) affects the morphological and biochemical phenotype but not metalloproteinase homeostasis. Journal of Cellular Physiology 197 (1), pp. 149-156.

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Abstract

The tissue inhibitor of metalloproteinases-3 (TIMP3) is a multifunctional protein tightly associated with the extracellular matrix (ECM). A specific type of mutation in TIMP3 which results in potentially unpaired cysteine residues at the C-terminus of the protein has been shown to cause Sorsby fundus dystrophy (SFD), an autosomal dominant retinopathy of late onset. An early finding in SFD is a ...

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Item type:Article
Date:2003
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1002/jcp.10361DOI
12942551UNSPECIFIED
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:No
Item ID:35863
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