Functional characterization of ABCA4 genetic variants related to Stargardt disease
Functional characterization of ABCA4 genetic variants related to Stargardt disease
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
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, we functionally characterized
ABCA4
variants...
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Full title
Functional characterization of ABCA4 genetic variants related to Stargardt disease
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TN_cdi_doaj_primary_oai_doaj_org_article_ff2d14dfca2f448ca17be7564a682797
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ff2d14dfca2f448ca17be7564a682797
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-022-26912-6
