Challenges in classification of novel CFH variants in patients with atypical hemolytic uremic syndrome

Challenges in classification of novel CFH variants in patients with atypical hemolytic uremic syndrome

Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy (TMA) characterized by dysregulation of the alternative pathway of complement. Heterozygous variants in complement and complement regulatory proteins may increase risk for aHUS and, to date, the highest frequency of disease-ca...

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Bibliographic Details
Main Authors: Meera Sridharan, Michelle L. Kluge, Ronald S. Go, Roshini S. Abraham, Ann M. Moyer
Format: Article
Language:English
Published: Elsevier 2020-12-01
Series:Thrombosis Update
Subjects:
Alternative pathway
Thrombotic microangiopathy
Complement factor H
Genetic variant classification
Online Access:http://www.sciencedirect.com/science/article/pii/S266657272030002X

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http://www.sciencedirect.com/science/article/pii/S266657272030002X

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