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Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration

ABCA4 is an ATP-binding cassette (ABC) transporter expressed in photoreceptors, where it transports its substrate, N-retinylidene-phosphatidylethanolamine (N-Ret-PE), across outer segment membranes to facilitate the clearance of retinal from photoreceptors. Mutations in ABCA4 cause Stargardt macular...

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Detalles Bibliográficos
Autores principales:	Garces, Fabian A., Scortecci, Jessica F., Molday, Robert S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7796138/ https://www.ncbi.nlm.nih.gov/pubmed/33375396 http://dx.doi.org/10.3390/ijms22010185

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