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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Vydáno v:Invest Ophthalmol Vis Sci
Hlavní autoři: Garces, Fabian, Jiang, Kailun, Molday, Laurie L., Stöhr, Heidi, Weber, Bernhard H., Lyons, Christopher J., Maberley, David, Molday, Robert S.
Médium: Artigo
Jazyk:Inglês
Vydáno: The Association for Research in Vision and Ophthalmology 2018
Témata:
Biochemistry and Molecular Biology
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5937799/
https://ncbi.nlm.nih.gov/pubmed/29847635
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.17-23364
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