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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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| 主要な著者: | , , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
American Society of Nephrology
2014
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| 主題: | |
| オンライン･アクセス: | 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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