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Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome

ABSTRACT: Atypical hemolytic uremic syndrome (aHUS) is characterized by microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment. Complement and coagulation gene variants have been associated with aHUS susceptibility. We assessed the diagnostic yield of a next-generation sequencing...

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Detalles Bibliográficos
Autores principales: Connaughton, Dervla M., Bhai, Pratibha, Isenring, Paul, Mahdi, Mohammed, Sadikovic, Bekim, Schenkel, Laila C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10400659/
https://www.ncbi.nlm.nih.gov/pubmed/37466676
http://dx.doi.org/10.1007/s00109-023-02341-4