Phenotypic Expansion of DGKE-Associated Diseases

Atypical hemolytic uremic syndrome (aHUS) is usually characterized by uncontrolled complement activation. The recent discovery of loss-of-function mutations in DGKE in patients with aHUS and normal complement levels challenged this observation. DGKE, encoding diacylglycerol kinase-ε, has not been im...

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Bibliographic Details
Main Authors: Westland, Rik, Bodria, Monica, Carrea, Alba, Lata, Sneh, Scolari, Francesco, Fremeaux-Bacchi, Veronique, D’Agati, Vivette D., Lifton, Richard P., Gharavi, Ali G., Ghiggeri, Gian Marco, Sanna-Cherchi, Simone
Format: Artigo
Language:Inglês
Published: American Society of Nephrology 2014
Subjects:
Brief Communications
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4073436/
https://ncbi.nlm.nih.gov/pubmed/24511134
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2013080886
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