An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access

PURPOSE: Advanced age-related macular degeneration (AAMD) risk is associated with rare complement Factor I (FI) genetic variants associated with low FI protein levels (termed ‘Type 1’), but it is unclear how variant prevalences differ between AMD patients from different ethnicities. METHODS: Collect...

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Detalles Bibliográficos
Autores principales: Jones, Amy V., Curtiss, Darin, Harris, Claire, Southerington, Tom, Hautalahti, Marco, Wihuri, Pauli, Mäkelä, Johanna, Kallionpää, Roosa E., Makkonen, Enni, Knopp, Theresa, Mannermaa, Arto, Mäkinen, Erna, Moilanen, Anne-Mari, Tezel, Tongalp H., Waheed, Nadia K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9447915/
https://www.ncbi.nlm.nih.gov/pubmed/36067162
http://dx.doi.org/10.1371/journal.pone.0272260

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