[Two cases of coagulation factor Ⅺ deficiency caused by compound heterozygous mutations].

Qian Li,Min Zhou,Yong Xu,Hui Zeng,Yueyi Xu,Peipei Xu,Bing Chen,Rongfu Zhou

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2022）

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Abstract

Compound heterozygous mutations g.1305-1G>A, g.1325delT and g.1124A>G, g.1550C>G had been identified in two coagulation factor Ⅺ deficiency patients which might be responsible for their prolonged APTT and low FⅪ: C. To the best of our knowledge, g.1325delT and g.1550C>G have been reported, while g.1124A>G and g.1305-1G>A are reported for the first time in the literature.

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Key words

Coagulation factor Ⅺ deficiency,Gene mutation,Molecular mechanism

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