Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome

BACKGROUND AND OBJECTIVES: Genetic and acquired abnormalities causing dysregulation of the complement alternative pathway contribute to atypical hemolytic uremic syndrome (aHUS), a rare disorder characterized by thrombocytopenia, nonimmune microangiopathic hemolytic anemia, and acute kidney failure....

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Bibliografiske detaljer
Udgivet i:Clin J Am Soc Nephrol
Main Authors: Mele, Caterina, Lemaire, Mathieu, Iatropoulos, Paraskevas, Piras, Rossella, Bresin, Elena, Bettoni, Serena, Bick, David, Helbling, Daniel, Veith, Regan, Valoti, Elisabetta, Donadelli, Roberta, Murer, Luisa, Neunhäuserer, Maria, Breno, Matteo, Frémeaux-Bacchi, Véronique, Lifton, Richard, Remuzzi, Giuseppe, Noris, Marina
Format: Artigo
Sprog:Inglês
Udgivet: American Society of Nephrology 2015
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4455211/
https://ncbi.nlm.nih.gov/pubmed/25854283
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2215/CJN.08520814
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