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Gain-of-Function Mutations R249C and S250C in Complement C2 Protein Increase C3 Deposition in the Presence of C-Reactive Protein

The impairment of the alternative complement pathway contributes to rare kidney diseases such as atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G). We recently described an aHUS patient carrying an exceptional gain-of-function (GoF) mutation (S250C) in the classical complement pa...

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Detalles Bibliográficos
Autores principales:	Urban, Aleksandra, Kowalska, Daria, Stasiłojć, Grzegorz, Kuźniewska, Alicja, Skrobińska, Anna, Arjona, Emilia, Alonso, Eugenia Castellote, Fenollosa Segarra, María Ángeles, Jongerius, Ilse, Spaapen, Robbert, Satchell, Simon, Thiel, Marcel, Ołdziej, Stanisław, Rodriguez de Córdoba, Santiago, Okrój, Marcin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Immunology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8654806/ https://www.ncbi.nlm.nih.gov/pubmed/34899688 http://dx.doi.org/10.3389/fimmu.2021.724361

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