Effect of rare coding variants in the CFI gene on Factor I expression levels

Factor I (FI) is one of the main inhibitors of complement activity, and numerous rare coding variants have been reported in patients with age-related macular degeneration, atypical hemolytic uremic syndrome and C3 glomerulopathy. Since many of these variants are of unknown clinical significance, thi...

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Detalles Bibliográficos
Autores principales: de Jong, Sarah, Volokhina, Elena B, de Breuk, Anita, Nilsson, Sara C, de Jong, Eiko K, van der Kar, Nicole C A J, Bakker, Bjorn, Hoyng, Carel B, van den Heuvel, Lambert P, Blom, Anna M, den Hollander, Anneke I
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7424754/
https://www.ncbi.nlm.nih.gov/pubmed/32510551
http://dx.doi.org/10.1093/hmg/ddaa114

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7424754/
https://www.ncbi.nlm.nih.gov/pubmed/32510551
http://dx.doi.org/10.1093/hmg/ddaa114

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