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Article

Genetic and functional analysis of two missense mutations in CD46 predispose to postpartum atypical hemolytic uremic syndrome.

Clinica chimica acta; international journal of clinical chemistry - 1 Apr 2020

Wu Hao, Mao Zhaomin, Tan Ying, Jiang Yanfang, Yu Jinyu, Song Li, Wu Shan, Sun Mindan, Zhu Li, Yu Xiaojuan, Zhang Li, Yu Feng, Zhao Ming-Hui

Abstract excerpt

Pregnancy associated atypical hemolytic uremic syndrome (p-aHUS) is a disease with a triad of hemolytic anemia, thrombocytopenia and acute renal failure, which might be attributed to the uncontrolled complement activation. Herein, we sequenced a postpartum-aHUS patient and found the two missense variants of CD46, a novel mutation (c.403G > C, p.G135R) from her father and a once reported mutation (c.293C > T,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31945341
DOI: 10.1016/j.cca.2020.01.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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