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Ultra-rare complement factor 8 coding variants in families with age-related macular degeneration

Genome-wide association studies have uncovered 52 independent common and rare variants across 34 genetic loci, which influence susceptibility to age related macular degeneration (AMD). Of the 5 AMD-associated complement genes, complement factor H (CFH) and CFI exhibit a significant rare variant burd...

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Detalles Bibliográficos
Autores principales: Zelinger, Lina, Martin, Tammy M., Advani, Jayshree, Campello, Laura, English, Milton A., Kwong, Alan, Weber, Claire, Maykoski, Jennifer, Sergeev, Yuri V., Fariss, Robert, Chew, Emily Y., Klein, Michael L., Swaroop, Anand
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10156737/
https://www.ncbi.nlm.nih.gov/pubmed/37153444
http://dx.doi.org/10.1016/j.isci.2023.106417