Prevalence and phenotype associations of complement factor I mutations in geographic atrophy

Rare variants in the complement factor I (CFI) gene, associated with low serum factor I (FI) levels, are strong risk factors for developing the advanced stages of age‐related macular degeneration (AMD). No studies have been undertaken on the prevalence of disease‐causing CFI mutations in patients wi...

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Detalles Bibliográficos
Autores principales: Khan, Adnan H., Sutton, Janice, Cree, Angela J., Khandhadia, Samir, De Salvo, Gabriella, Tobin, John, Prakash, Priya, Arora, Rashi, Amoaku, Winfried, Charbel Issa, Peter, MacLaren, Robert E., Bishop, Paul N., Peto, Tunde, Mohamed, Quresh, Steel, David H., Sivaprasad, Sobha, Bailey, Clare, Menon, Geeta, Kavanagh, David, Lotery, Andrew J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9290714/
https://www.ncbi.nlm.nih.gov/pubmed/34153144
http://dx.doi.org/10.1002/humu.24242

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