A novel compound heterozygous mutation in DGKE in a Chinese patient causes atypical hemolytic uremic syndrome.

Conclusions: Our study further expands the spectrum of the sequence variants reported in the DGKE gene and also indicates that different races may have different DGKE variants. Moreover, the altered structures and conformations, caused by DGKE mutations, disrupt the binding of DGKE with its partners, and leading to the occurrence of aHUS. PMID: 32091318 [PubMed - in process]
Source: Hematology - Category: Hematology Tags: Hematology Source Type: research