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
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2022
35754842 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2021
35140743 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1
Long-term outcomes and response to treatment in diacylglycerol kinase epsilon nephropathy.
Brocklebank V et al.
Kidney International, 2020
Atypical presentation of atypical haemolytic uraemic syndrome.
Basak R et al.
Bmj Case Reports, 2018
Clinical Practice Guidelines for the Management of Atypical Hemolytic Uremic Syndrome in Korea.
Cheong HI et al.
Journal of Korean Medical Science, 2016
Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome.
Mele C et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2015
Genetics: Hidden intronic mutations in DGKE are causative of aHUS.
Edwards JK
Nature Reviews. Nephrology, 2015
Novel Mutations in the DGKE Gene in Two Indian Patients with Early-onset Atypical Haemolytic Uraemic Syndrome.
Sharma J et al.
Indian Journal of Nephrology, 0
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