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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Detalles Bibliográficos
Autores principales: Schönauer, Ria, Seidel, Anna, Grohmann, Maik, Lindner, Tom H., Bergmann, Carsten, Halbritter, Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6530248/
https://www.ncbi.nlm.nih.gov/pubmed/31156713
http://dx.doi.org/10.3389/fgene.2019.00465

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6530248/
https://www.ncbi.nlm.nih.gov/pubmed/31156713
http://dx.doi.org/10.3389/fgene.2019.00465

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