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Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease

PURPOSE: Stargardt disease (STGD1), the most common early-onset recessive macular degeneration, is caused by mutations in the gene encoding the ATP-binding cassette transporter ABCA4. Although extensive genetic studies have identified more than 1000 mutations that cause STGD1 and related ABCA4-assoc...

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Detalles Bibliográficos
Autores principales:	Garces, Fabian, Jiang, Kailun, Molday, Laurie L., Stöhr, Heidi, Weber, Bernhard H., Lyons, Christopher J., Maberley, David, Molday, Robert S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Association for Research in Vision and Ophthalmology 2018
Materias:	Biochemistry and Molecular Biology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5937799/ https://www.ncbi.nlm.nih.gov/pubmed/29847635 http://dx.doi.org/10.1167/iovs.17-23364

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