Consequences of a Rare Complement Factor H Variant for Age-Related Macular Degeneration in the Amish

PURPOSE: Genetic variants in the complement factor H gene (CFH) have been consistently implicated in age-related macular degeneration (AMD) risk. However, their functional effects are not fully characterized. We previously identified a rare, AMD-associated variant in CFH (P503A, rs570523689) in 19 A...

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Detalles Bibliográficos
Autores principales: Waksmunski, Andrea R., Miskimen, Kristy, Song, Yeunjoo E., Grunin, Michelle, Laux, Renee, Fuzzell, Denise, Fuzzell, Sarada, Adams, Larry D., Caywood, Laura, Prough, Michael, Stambolian, Dwight, Scott, William K., Pericak-Vance, Margaret A., Haines, Jonathan L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9363678/
https://www.ncbi.nlm.nih.gov/pubmed/35930268
http://dx.doi.org/10.1167/iovs.63.9.8

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