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Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration

ABCA4 is a member of the superfamily of ATP-binding cassette (ABC) proteins that transports N-retinylidene-phosphatidylethanolamine (N-Ret-PE) across outer segment disc membranes thereby facilitating the removal of potentially toxic retinoid compounds from photoreceptor cells. Mutations in the gene...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Molday, Laurie L, Wahl, Daniel, Sarunic, Marinko V, Molday, Robert S
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886264/
https://ncbi.nlm.nih.gov/pubmed/29145636
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx400
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