Functional characterization of ABCA4 genetic variants related to Stargardt disease

The ATP-binding cassette subfamily 4 (ABCA4), a transporter, is localized within the photoreceptors of the retina, and its genetic variants cause retinal dystrophy. Despite the clinical importance of the ABCA4 transporter, a few studies have investigated the function of each variant. In this study,...

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Detalles Bibliográficos
Autores principales: Kim, Bo Min, Song, Hyo Sook, Kim, Jin-Young, Kwon, Eun Young, Ha, Seung Yeon, Kim, Minsuk, Choi, Ji Ha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9790013/
https://www.ncbi.nlm.nih.gov/pubmed/36566289
http://dx.doi.org/10.1038/s41598-022-26912-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9790013/
https://www.ncbi.nlm.nih.gov/pubmed/36566289
http://dx.doi.org/10.1038/s41598-022-26912-6

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