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Functional Characterization of Rare Genetic Variants in the N-Terminus of Complement Factor H in aHUS, C3G, and AMD
Membranoproliferative glomerulonephritis (MPGN), C3 glomerulopathy (C3G), atypical haemolytic uraemic syndrome (aHUS) and age-related macular degeneration (AMD) have all been strongly linked with dysfunction of the alternative pathway (AP) of complement. A significant proportion of individuals with...
Autores principales: | Wong, Edwin K. S., Hallam, Thomas M., Brocklebank, Vicky, Walsh, Patrick R., Smith-Jackson, Kate, Shuttleworth, Victoria G., Cox, Thomas E., Anderson, Holly E., Barlow, Paul Nigel, Marchbank, Kevin James, Harris, Claire L., Kavanagh, David |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7840601/ https://www.ncbi.nlm.nih.gov/pubmed/33519811 http://dx.doi.org/10.3389/fimmu.2020.602284 |
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