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
Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.
Osborne AJ et al.
Journal of Immunology (baltimore, Md. : 1950), 2018
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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