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Genetic analysis in Factor XI deficient patients from central China: identification of one novel and seven recurrent mutations.

Gene - 25 Apr 2015

Liu Hui, Wang Hua-Fang, Tang Liang, Yang Yan, Wang Qing-Yun, Zeng Wei, Wu Ying-Ying, Cheng Zhi-Peng, Hu Bei, Guo Tao, Hu Yu

Abstract excerpt

Factor XI (FXI) deficiency is a rare bleeding disorder with a range of manifestations from asymptomatic to trauma related bleeding. To identify mutations in FXI-deficient patients and characterize the phenotype-genotype relationship, we studied six patients and their 18 family members in central China. Five patients were identified by presurgical or routine laboratory screening but had no bleeding symptoms. Only...

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PMID: 25681615
DOI: 10.1016/j.gene.2015.02.021

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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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