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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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| Publicado no: | Invest Ophthalmol Vis Sci |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Association for Research in Vision and Ophthalmology
2018
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| Assuntos: | |
| Acesso em linha: | 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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