Macular degeneration: the emerging genetics.
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.
Lewis
R A
RA
Medical Scientist Training Program, Baylor College of Medicine, Houston, USA.
Lupski
J R
JR
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
D018528:ATP-Binding Cassette Transporters