Novel mutations in the DGKE gene in two indian patients with early-onset atypical haemolytic uraemic syndrome

We report here two such novel clinically relevant variants (c.727_730delTTGT and c.251_259delGCGCCTTC) in the DGKE gene, in two families of infantile aHUS with low serum C3 levels.

Source: Indian Journal of Nephrology - April 20, 2021 Category: Urology & Nephrology Authors: Jyoti Sharma Valentine Lobo Jyoti Singhal Siddharth Anand Sandeep Kadam Shatakshi Ranade Priyanka Gangodkar Karthik Ganesan Nikhil Phadke Meenal Agarwal Source Type: research