Identification of the gene responsible for Best macular dystrophy

Author:

Petrukhin Konstantin,Koisti Markus J.,Bakall Benjamin,Li Wen,Xie Guochun,Marknell Towa,Sandgren Ola,Forsman Kristina,Holmgren Gösta,Andreasson Sten,Vujic Mihailo,Bergen Arthur A. B.,McGarty-Dugan Valarie,Figueroa David,Austin Christopher P.,Metzker Michael L.,Caskey C.Thomas,Wadelius Claes

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Reference32 articles.

1. Godel, V., Chaine, G., Regenbogen, L. & Coscas, G. Best's vitelliform macular dystrophy. Acta Ophthalmol. Suppl. 175, 1–31 (1986).

2. Cross, H.E. & Bard, L. Electro-oculography in Best's macular dystrophy. Am. J. Ophthalmol. 77, 46– 50 (1974).

3. Leibowitz, H.M. et al. The Framingham eye study monograph: an ophthalmological and epidemiological study of cataract, glaucoma, diabetic retinopathy, macular degeneration, and visual acuity in a general population of 2631 adults, 1973-1975. Surv. Ophthalmol. 24 (S), 428–457 (1980).

4. Allikmets, R.L. et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nature Genet. 15, 236–246 (1997).

5. Allikmets, R.L. et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277, 1805– 1807 (1997).

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