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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Библиографические подробности
Опубликовано в: :Invest Ophthalmol Vis Sci
Главные авторы: Müller, Philipp L., Gliem, Martin, Mangold, Elisabeth, Bolz, Hanno J., Finger, Robert P., McGuinness, Myra, Betz, Christian, Jiang, Zhichun, Weber, Bernhard H. F., MacLaren, Robert E., Holz, Frank G., Radu, Roxana A., Charbel Issa, Peter
Формат: Artigo
Язык:Inglês
Опубликовано: The Association for Research in Vision and Ophthalmology 2015
Предметы:
Retina
Online-ссылка: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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