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

@article{Weber1994MutationsIT,
  title={Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy},
  author={Bernhard H F Weber and Gudrun Vogt and Ronald C. Pruett and Heidi St{\"o}hr and Ute Felbor},
  journal={Nature Genetics},
  year={1994},
  volume={8},
  pages={352-356}
}
The hereditary macular dystrophies are progressive degenerations of the central retina and contribute significantly to irreversible visual loss in developed countries. Among these disorders, Sorsby's fundus dystrophy (SFD), an autosomal dominant condition, provides an excellent mendelian model for the study of the genetically complex age-related macular degeneration (AMD), the most common maculopathy in the elderly. Recently, we mapped the SFD locus to 22q13–qter. This same region contains the… CONTINUE READING
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