Cargando…

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...

Descripción completa

Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
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