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CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome

INTRODUCTION: Atypical hemolytic uremic syndrome (aHUS) is a rare disease that manifests with microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure, and is associated with dysregulation of the alternative complement pathway. The chromosomal region including CFH and CFHR1-5 is...

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Detalles Bibliográficos
Autores principales: Piras, Rossella, Valoti, Elisabetta, Alberti, Marta, Bresin, Elena, Mele, Caterina, Breno, Matteo, Liguori, Lucia, Donadelli, Roberta, Rigoldi, Miriam, Benigni, Ariela, Remuzzi, Giuseppe, Noris, Marina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9923232/
https://www.ncbi.nlm.nih.gov/pubmed/36793547
http://dx.doi.org/10.3389/fimmu.2022.1011580

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