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The rare C9 P167S risk variant for age-related macular degeneration increases polymerization of the terminal component of the complement cascade

Age-related macular degeneration (AMD) is a complex neurodegenerative eye disease with behavioral and genetic etiology and is the leading cause of irreversible vision loss among elderly Caucasians. Functionally significant genetic variants in the alternative pathway of complement have been strongly...

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Detalles Bibliográficos
Autores principales: McMahon, O, Hallam, T M, Patel, S, Harris, C L, Menny, A, Zelek, W M, Widjajahakim, R, Java, A, Cox, T E, Tzoumas, N, Steel, D H W, Shuttleworth, V G, Smith-Jackson, K, Brocklebank, V, Griffiths, H, Cree, A J, Atkinson, J P, Lotery, A J, Bubeck, D, Morgan, B P, Marchbank, K J, Seddon, J M, Kavanagh, D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8212764/
https://www.ncbi.nlm.nih.gov/pubmed/33783477
http://dx.doi.org/10.1093/hmg/ddab086