Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels

To assess a potential diagnostic and therapeutic biomarker for age-related macular degeneration (AMD), we sequenced the complement factor I gene (CFI) in 2266 individuals with AMD and 1400 without, identifying 231 individuals with rare genetic variants. We evaluated the functional impact by measurin...

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Detalles Bibliográficos
Autores principales: Kavanagh, David, Yu, Yi, Schramm, Elizabeth C., Triebwasser, Michael, Wagner, Erin K., Raychaudhuri, Soumya, Daly, Mark J., Atkinson, John P., Seddon, Johanna M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Association Studies Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4459386/
https://www.ncbi.nlm.nih.gov/pubmed/25788521
http://dx.doi.org/10.1093/hmg/ddv091

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4459386/
https://www.ncbi.nlm.nih.gov/pubmed/25788521
http://dx.doi.org/10.1093/hmg/ddv091

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