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...

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Veröffentlicht in:	Frontiers in immunology Jg. 11; S. 602284
Hauptverfasser:	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
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	Switzerland Frontiers Media S.A 14.01.2021
Schlagworte:	age-related macular degeneration aHUS Atypical Hemolytic Uremic Syndrome - genetics C3G complement factor H Complement Factor H - chemistry Complement Factor H - genetics Genetic Variation Glomerulonephritis, Membranoproliferative - genetics Humans Immunology Macular Degeneration - genetics MPGN aHUS age-related macular degeneration C3G MPGN complement factor H
ISSN:	1664-3224, 1664-3224
Online-Zugang:	Volltext
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