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...

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Detalles Bibliográficos
Autores principales: Ersoy Dursun, F, Yesil, G, Sasak, G, Dursin, H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2021
Materias:
Original Article
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

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