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
Clinical characteristics and genetic backgrounds of Japanese patients with atypical hemolytic uremic syndrome.
Fujisawa M et al.
Clinical and Experimental Nephrology, 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
Atypical haemolytic uraemic syndrome in a Japanese patient with DGKE genetic mutations.
Miyata T et al.
Thrombosis and Haemostasis, 2015
[Development and application of a new ADAMTS13 assay for TTP diagnosis].
Kokame K et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology, 2005
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