Novel mutations in the DGKE gene in two indian patients with early-onset atypical haemolytic uraemic...
Novel mutations in the DGKE gene in two indian patients with early-onset atypical haemolytic uraemic syndrome
About this item
Full title
Author / Creator
Publisher
Mumbai: Wolters Kluwer India Pvt. Ltd
Journal title
Language
English
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Publication information
Publisher
Mumbai: Wolters Kluwer India Pvt. Ltd
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Scope and Contents
Contents
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 recessive aHUS. The presence of low serum C3 levels...
Alternative Titles
Full title
Novel mutations in the DGKE gene in two indian patients with early-onset atypical haemolytic uraemic syndrome
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8240919
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8240919
Other Identifiers
ISSN
0971-4065
E-ISSN
1998-3662
DOI
10.4103/ijn.IJN_336_19
