Article
Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells.
Human molecular genetics - 1 Dec 2005
Langton Kevin P, McKie Norman, Smith Brenda M, Brown Nicola J, Barker Michael D
Abstract excerpt
Sorsby's fundus dystrophy (SFD) is an autosomal dominant degenerative disease of the retina, caused by mutations in exon 5 of the gene for tissue inhibitor of metalloproteinases-3 (TIMP-3). The mechanism by which these mutations give rise to the disease phenotype is unknown. In an attempt to identify common properties of these molecules that might underlie the disease phenotype, a range of SFD mutants were...
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