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Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

✍ Scribed by Weber, Bernhard H. F.; Vogt, Gudrun; Pruett, Ronald C.; Stöhr, Heidi; Felbor, Ute

Book ID
109918858
Publisher
Nature Publishing Group
Year
1994
Tongue
English
Weight
816 KB
Volume
8
Category
Article
ISSN
1061-4036

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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