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Increased cone sensitivity to ABCA4 deficiency provides insight into macular vision loss in Stargardt’s dystrophy

Autosomal recessive Stargardt macular dystrophy is caused by mutations in the photoreceptor disc rim protein ABCA4/ABCR. Key clinical features of Stargardt disease include relatively mild rod defects such as delayed dark adaptation, coupled with severe cone defects reflected in macular atrophy and c...

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Detalhes bibliográficos
Main Authors: Conley, Shannon M., Cai, Xue, Makkia, Rasha, Wu, Yalin, Sparrow, Janet R., Naash, Muna I.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3351560/
https://ncbi.nlm.nih.gov/pubmed/22033104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2011.10.007
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