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Article

Genetic and Protein Structural Evaluation of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.

Advances in chronic kidney disease - 1 Mar 2020

Perkins Stephen J

Abstract excerpt

Atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G) are associated with loss of regulation of the alternative pathway of complement and its resulting overactivation. As rare diseases, genetic variants leading to aHUS and C3G were previously analysed in relatively low patient numbers. To improve this analysis, data were pooled from six centres. Totals of 610 rare variants for aHUS and 82 for C3G...

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Identifiers

PMID: 32553244
DOI: 10.1053/j.ackd.2020.03.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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