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Functional Analysis and Classification of Homozygous and Hypomorphic ABCA4 Variants Associated with Stargardt Macular Degeneration
Stargardt macular degeneration (STGD1) is caused by mutations in the gene encoding ABCA4, an ATP-binding cassette protein that transports N-retinylidene-phosphatidylethanolamine (N-Ret-PE) across photoreceptor membranes. Reduced ABCA4 activity results in retinoid accumulation leading to photorecepto...
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| Veröffentlicht in: | Hum Mutat |
|---|---|
| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2020
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7755071/ https://ncbi.nlm.nih.gov/pubmed/32845050 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24100 |
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