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Article

Defective C3d caused by C3 p.W1034R in inherited atypical hemolytic uremic syndrome.

Molecular genetics & genomic medicine - 1 Jan 2024

Tsuchida Masafumi, Goto Shin, Watanabe Hirofumi, Goto Sawako, Yamaguchi Hiroki, Narita Ichiei

Abstract excerpt

INTRODUCTION: Atypical hemolytic uremic syndrome (aHUS) is a rare form of thrombotic microangiopathy. Personal genome analyses have revealed numerous aHUS-causing variants, mainly complement-related genes. However, not all aHUS-causing variants have been functionally validated. METHODS: An exome sequence analysis of a Japanese multiplex family composed of three patients diagnosed with aHUS in infancy and showing...

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PMID: 37795781
DOI: 10.1002/mgg3.2288
PMCID: PMC10767574

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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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