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Article

Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.

Blood - 2 Dec 2021

Martín Merinero Hector, Zhang Yuzhou, Arjona Emilia, Del Angel Guillermo, Goodfellow Renee, Gomez-Rubio Elena, Ji Rui-Ru, Michelena Malkoa, Smith Richard J H, Rodríguez de Córdoba Santiago

Abstract excerpt

Atypical hemolytic uremic syndrome (aHUS) is a life-threatening thrombotic microangiopathy that can progress, when untreated, to end-stage renal disease. Most frequently, aHUS is caused by complement dysregulation due to pathogenic variants in genes that encode complement components and regulators. Among these genes, the factor H (FH) gene, CFH, presents with the highest frequency (15% to 20%) of variants and is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34189567
DOI: 10.1182/blood.2021012037
PMCID: PMC8641096

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