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Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study
PURPOSE: To investigate the effect of ABCA4 mutation status on lipofuscin-related quantitative autofluorescence (qAF) in humans and on bisretinoid accumulation in mice. METHODS: Genotyped parents (n = 26; age 37–64 years) of patients with biallelic ABCA4-related retinopathy underwent in-depth retina...
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| Publié dans: | Invest Ophthalmol Vis Sci |
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| Auteurs principaux: | , , , , , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
The Association for Research in Vision and Ophthalmology
2015
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5110240/ https://ncbi.nlm.nih.gov/pubmed/26720470 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.15-17629 |
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