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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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| Publicado no: | Int J Mol Sci |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7796138/ https://ncbi.nlm.nih.gov/pubmed/33375396 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22010185 |
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