Article
Macular degeneration: the emerging genetics.
Hospital practice (1995) - 15 Jun 2000
Lewis R A, Lupski J R
Abstract excerpt
Discovery of the gene responsible for a recessive, early-onset maculopathy has focused attention on a biomolecular pathway in which subtle metabolic flaws become toxic to irreplaceable retinal cells. The pathway's identification points toward specific ways of intervening. Among patients with age-related macular degeneration, carriers of single mutations in the same gene are proving to be remarkably common.
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