Combination of a Novel Genetic Variant in CFB Gene and a Pathogenic Variant in COL4A5 Gene in a Sibling Renal Disease: A Case Report

Complement factor B (CFB) variants have been described to play a causative role in auto-immune associated C3 glomerulopathy (C3G) and/or atypical hemolytic uremic syndrome (aHUS) by affecting the dysregulations of alternative pathway activation. However, CFB variant concomitant with COL4A5 variant i...

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Detalles Bibliográficos
Autores principales: Wang, Feng-mei, Yang, Yan, Zhang, Xiao-liang, Wang, Yan-li, Tu, Yan, Liu, Bi-Cheng, Wang, Bin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8326751/
https://www.ncbi.nlm.nih.gov/pubmed/34349783
http://dx.doi.org/10.3389/fgene.2021.690952

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8326751/
https://www.ncbi.nlm.nih.gov/pubmed/34349783
http://dx.doi.org/10.3389/fgene.2021.690952

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