Article
Evaluation of the gene encoding the tissue inhibitor of metalloproteinases-3 in various maculopathies.
Investigative ophthalmology & visual science - 1 May 1997
Felbor U, Doepner D, Schneider U, Zrenner E, Weber B H
Abstract excerpt
PURPOSE: Mutations in the gene encoding the tissue inhibitor of metalloproteinases-3 (TIMP3) have been shown previously to cause Sorsby's fundus dystrophy, an autosomal-dominant disorder characterized by extracellular matrix irregularities in Bruch's membrane. To assess the involvement of TIMP3 in a variety of other macular dystrophies, the authors have screened this gene for disease-causing mutations in...
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