Associated Papers
Novel Heterozygous Missense Variants in Diacylglycerol Kinase Epsilon and Complement Factor I: Potential Pathogenic Association With Atypical Hemolytic Uremic Syndrome.
Abughanimeh OK et al.
Cureus, 2024
A novel compound heterozygous mutation in DGKE in a Chinese patient causes atypical hemolytic uremic syndrome.
Li J et al.
Hematology (amsterdam, Netherlands), 2020
The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε.
Azukaitis K et al.
Journal of the American Society of Nephrology : Jasn, 2017
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
Lemaire M et al.
Nature Genetics, 2013
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