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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Nephrology 2014
Témata:
Brief Communications
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky