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

Garces, Fabian ; Jiang, Kailun ; Molday, Laurie L. ; Stöhr, Heidi ; Weber, Bernhard H. ; Lyons, Christopher J. ; Maberley, David ; Molday, Robert S.



Abstract

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-associated diseases, few studies have investigated the extent to which mutations affect the biochemical ...

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