Article
A novel compound heterozygous mutation in DGKE in a Chinese patient causes atypical hemolytic uremic syndrome.
Hematology (Amsterdam, Netherlands) - 1 Dec 2020
Li Jitong, Song Yinsen, Zhang Yaodong, Li Hongjiang, Tian Ming, Li Di, Zhang Shufeng, Cao Guanghai, Liu Cuihua
Abstract excerpt
Objectives: DGKE mutations can lead to hemolysis and thrombus in patients with atypical hemolytic uremic syndrome (aHUS). However, the sequence variants of DGKE in Chinese patients with aHUS have not been reported, and the protein function and crystal structure of DGKE remain unresolved.Methods: Targeted exome sequencing was accomplished in one affected patient from each family using the Illumina NextSeq 500...
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