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Sorsby's fundus dystrophy: a genetically homogeneous condition

✍ Scribed by Ute Felbor; Bernhard H. F. Weber

Publisher
Springer
Year
1998
Tongue
German
Weight
215 KB
Volume
95
Category
Article
ISSN
0941-293X

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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