title: Macular degeneration: the emerging genetics.
abstract: 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.
authors.affiliation: Medical Scientist Training Program, Baylor College of Medicine, Houston, USA.
authors.forename: R A
authors.initials: RA
authors.lastname: Lewis
authors.forename: J R
authors.initials: JR
authors.lastname: Lupski
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics / Q000502:physiology; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics* / Q000503:physiopathology; D008957:Models, Genetic; D010641:Phenotype
chemical_list: D018528:ATP-Binding Cassette Transporters