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Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank

To evaluate potential diagnostic and therapeutic biomarkers for age-related macular degeneration (AMD), we identified 8433 UK Biobank participants with rare complement Factor I gene (CFI) variants, 579 with optical coherence tomography-derived macular thickness data. We stratified these variants by...

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Detalles Bibliográficos
Autores principales:	Tzoumas, Nikolaos, Kavanagh, David, Cordell, Heather J, Lotery, Andrew J, Patel, Praveen J, Steel, David H
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2022
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9402241/ https://www.ncbi.nlm.nih.gov/pubmed/35285476 http://dx.doi.org/10.1093/hmg/ddac060

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