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Thrombophilia Caused by Beta2-Glycoprotein I Deficiency: In Vitro Study of a Rare Mutation in APOH Gene.

Current medical science - 1 Apr 2018

Zhang Xiao-Ping, Zeng Wei, Liu Hui, Tang Liang, Wang Qing-Yun, Cheng Zhi-Peng, Wu Ying-Ying, Hu Bei, Shi Wei, Hu Yu

Abstract excerpt

This study aimed to explore the mechanism of a novel mutation (p.Lys38Glu) in apolipoprotein H (APOH) gene causing hereditary beta2-glycoprotein I (β2GPI) deficiency and thrombosis in a proband with thrombophilia. The plasma level of β2GPI was measured by ELISA and Western blotting, and anti-β2GPI antibody by ELISA. Lupus anticoagulant (LA) was assayed using the dilute Russell viper venom time. Deficiency of the...

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PMID: 30074200
DOI: 10.1007/s11596-018-1889-y

Genes

APOH

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

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