Functional Analysis of Rare Genetic Variants in Complement Factor I (CFI) using a Serum-Based Assay in Advanced Age-related Macular Degeneration

PURPOSE: Factor I (FI) is a serine protease regulator of the complement system. Genetic variants in CFI are associated with advanced age-related macular degeneration (AAMD). However, the clinical and functional impact of these variants is unknown. This study assessed the functional significance of r...

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Detalles Bibliográficos
Autores principales: Java, Anuja, Baciu, Peter, Widjajahakim, Rafael, Sung, Yun Ju, Yang, Jae, Kavanagh, David, Atkinson, John, Seddon, Johanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7453046/
https://www.ncbi.nlm.nih.gov/pubmed/32908800
http://dx.doi.org/10.1167/tvst.9.9.37

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7453046/
https://www.ncbi.nlm.nih.gov/pubmed/32908800
http://dx.doi.org/10.1167/tvst.9.9.37

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