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

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

Atypical haemolytic uremic syndrome (aHUS) is a clinically and genetically heterogeneous condition caused by a complex interplay between genomic susceptibility factors and environmental influences. Pathogenic variants in the DGKE gene are recently identified in cases with infantile-onset autosomal r...

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Bibliographic Details
Main Authors: Jyoti Sharma, Valentine Lobo, Jyoti Singhal, Siddharth Anand, Sandeep Kadam, Shatakshi Ranade, Priyanka Gangodkar, Karthik Ganesan, Nikhil Phadke, Meenal Agarwal
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2021-01-01
Series:Indian Journal of Nephrology
Subjects:
atypical haemolytic uremic syndrome
dgke
next-generation sequencing
novel mutations
Online Access:http://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2021;volume=31;issue=2;spage=182;epage=186;aulast=Sharma

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http://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2021;volume=31;issue=2;spage=182;epage=186;aulast=Sharma

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