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

Internet

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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