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Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China.

Blood cells, molecules & diseases - 1 May 2016

Shao Yanyan, Cao Yanan, Lu Yeling, Dai Jing, Ding Qiulan, Wang Xuefeng, Xi Xiaodong, Wang Hongli

Abstract excerpt

Congenital factor XI (FXI) deficiency is a rare bleeding disorder with unpredictable bleeding tendency. Few studies in a large cohort have been reported regarding associations between FXI activity (FXI:C) or genotypes and bleeding symptoms currently. This study characterized clinical manifestations and mutation spectrum of 57 subjects with FXI deficiency in China. Clinical data were collected and mutations were...

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PMID: 27067486
DOI: 10.1016/j.bcmd.2016.01.004

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