Deleterious Impact of a Novel CFH Splice Site Variant in Atypical Hemolytic Uremic Syndrome

Deleterious Impact of a Novel CFH Splice Site Variant in Atypical Hemolytic Uremic Syndrome

Atypical hemolytic uremic syndrome (aHUS) is a heterogeneous disorder characterized by microangiopathic hemolytic anemia (MAHA), thrombocytopenia, and acute kidney injury (AKI). In about 50% of cases, pathogenic variants in genes involved in the innate immune response including complement factors co...

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Bibliographic Details
Main Authors: Ria Schönauer, Anna Seidel, Maik Grohmann, Tom H. Lindner, Carsten Bergmann, Jan Halbritter
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-05-01
Series:Frontiers in Genetics
Subjects:
complement factor H
atypical hemolytic uremic syndrome
splice site variant
short consensus repeat 18
eculizumab
CFH
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00465/full

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https://www.frontiersin.org/article/10.3389/fgene.2019.00465/full

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