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Two Novel Mutations (G774A and A1685G) Causing Coagulation Factor XII Deficiency in a Patient with Acute Inferior Myocardial Infarction.

Annals of clinical and laboratory science - 1 May 2021

Xiao Bing, Liu Fan, Jin Ye-Hui, Wang Meng-Xiao, Zhang Jie, Lu Jing-Chao, Yang Xiu-Chun

Abstract excerpt

OBJECTIVE: To identify the gene mutation of the coagulation factor XII (FXII) in a patient with FXII deficiency and acute inferior myocardial infarction. METHODS: The proband was a 51-year-old Chinese man who was diagnosed with acute inferior myocardial infarction and had a history of FXII deficiency. The patient presented with a prolonged activated partial thromboplastin time (160 s) and decreased FXII activity...

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PMID: 34162575

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