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Familial Atypical Hemolytic Uremic Syndrome with Positive p.S1191L (c.3572C>T) Mutation on The CFH Gene: a Single-center Experience
The atypical hemolytic uremic syndrome (aHUS) is characterized by thrombocytopenia, microangiopathic hemolytic anemia and acute kidney injury (AKI), which can exhibit a poor prognosis. Complement factor H (CFH) gene mutations play a key role in this disease, which may be sporadic or familial. We stu...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Sciendo
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8366473/ https://www.ncbi.nlm.nih.gov/pubmed/34447663 http://dx.doi.org/10.2478/bjmg-2021-0007 |