Article
Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease.
Investigative ophthalmology & visual science - 1 May 2018
Garces Fabian, Jiang Kailun, Molday Laurie L, Stöhr Heidi, Weber Bernhard H, Lyons Christopher J, Maberley David, Molday Robert S
Abstract excerpt
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 properties of...
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