G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy-Reference-Cited by-同舟云学术

G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy

Published:2009-06 Issue:1 Volume:89 Page:16-24
ISSN:0014-4835
Container-title:Experimental Eye Research
language:en
Short-container-title:Experimental Eye Research

Author:

Cella Wener,Greenstein Vivienne C.,Zernant-Rajang Jana,Smith Theodore R.,Barile Gaetano,Allikmets Rando,Tsang Stephen H.

Publisher

Elsevier BV

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Reference42 articles.

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3. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy;Allikmets;Nat. Genet.,1997

4. Biosynthetic studies of A2E, a major fluorophore of retinal pigment epithelial lipofuscin;Ben-Shabat;J. Biol. Chem.,2002

5. Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence;Cideciyan;Hum. Mol. Genet.,2004

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