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Molecular Studies and an ex vivo Complement Assay on Endothelium Highlight the Genetic Complexity of Atypical Hemolytic Uremic Syndrome: The Case of a Pedigree With a Null CD46 Variant
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 phar...
Zapisane w:
| Wydane w: | Front Med (Lausanne) |
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| Główni autorzy: | , , , , , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Frontiers Media S.A.
2020
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7670076/ https://ncbi.nlm.nih.gov/pubmed/33224962 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fmed.2020.579418 |
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