Case report: A family of atypical hemolytic uremic syndrome involving a CFH::CFHR1 fusion gene and CFHR3-1-4-2 gene duplication

Mutations in the complement factor H (CFH) gene are associated with complement dysregulation and the development of atypical hemolytic uremic syndrome (aHUS). Several fusion genes that result from genomic structural variation in the CFH and complement factor H-related (CFHR) gene regions have been i...

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Bibliografski detalji

Glavni autori:	Yuko Tasaki, Hiroshi Tsujimoto, Tadafumi Yokoyama, Naotoshi Sugimoto, Shinji Kitajima, Hiroshi Fujii, Yoshihiko Hidaka, Noritoshi Kato, Shoichi Maruyama, Norimitsu Inoue, Taizo Wada
Format:	Artigo
Jezik:	Inglês
Izdano:	Frontiers Media S.A. 2024-03-01
Serija:	Frontiers in Immunology
Teme:	atypical hemolytic uremic syndrome factor H complement factor H-related multiplex ligation-dependent probe amplification (MLPA) CFH::CFHR1 fusion gene CFHR3-1-4-2 genes duplication
Online pristup:	https://www.frontiersin.org/articles/10.3389/fimmu.2024.1360855/full
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