Molecular Studies and an
CD46 expression
atypical hemolytic uremic syndrome
complement
ex-vivo assay
incomplete penetrance
membrane cofactor protein
rare variants
splicing
Journal
Frontiers in medicine
ISSN: 2296-858X
Titre abrégé: Front Med (Lausanne)
Pays: Switzerland
ID NLM: 101648047
Informations de publication
Date de publication:
2020
2020
Historique:
received:
02
07
2020
accepted:
30
09
2020
entrez:
23
11
2020
pubmed:
24
11
2020
medline:
24
11
2020
Statut:
epublish
Résumé
Atypical hemolytic uremic syndrome (aHUS) is an ultra-rare disease characterized by microangiopathic hemolysis, thrombocytopenia, and renal impairment and is associated with dysregulation of the alternative complement pathway on the microvascular endothelium. Outcomes have improved greatly with pharmacologic complement C5 blockade. Abnormalities in complement genes (
Identifiants
pubmed: 33224962
doi: 10.3389/fmed.2020.579418
pmc: PMC7670076
doi:
Types de publication
Journal Article
Langues
eng
Pagination
579418Informations de copyright
Copyright © 2020 Piras, Iatropoulos, Bresin, Todeschini, Gastoldi, Valoti, Alberti, Mele, Galbusera, Cuccarolo, Benigni, Remuzzi and Noris.
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