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

The aim of this study was to characterize the pathological and functional consequences of the G1961E mutant allele in the Stargardt disease gene ABCA4. Data from 15 patients were retrospectively reviewed and all the patients had at least one G1961E mutation. Comprehensive ophthalmic examination, ful...

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Detalhes bibliográficos
Main Authors: Cella, Wener, Greenstein, Vivienne C., Zernant-Rajang, Jana, Smith, Theodore R., Barile, Gaetano, Allikmets, Rando, Tsang, Stephen H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2742677/
https://ncbi.nlm.nih.gov/pubmed/19217903
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.exer.2009.02.001
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