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Deleterious Impact of a Novel CFH Splice Site Variant in Atypical Hemolytic Uremic Syndrome
Atypical hemolytic uremic syndrome (aHUS) is a heterogeneous disorder characterized by microangiopathic hemolytic anemia (MAHA), thrombocytopenia, and acute kidney injury (AKI). In about 50% of cases, pathogenic variants in genes involved in the innate immune response including complement factors co...
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| Publicado no: | Front Genet |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6530248/ https://ncbi.nlm.nih.gov/pubmed/31156713 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00465 |
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