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Detection and Gene Mutation Analysis of Three Variations in Two Unrelated Chinese Hereditary Coagulation Factor XI Deficiency Families.

Acta haematologica - 1 Jan 2022

Yang Ting, Zhu Jin, Chen Xiuhua, Wang Fengping, Zheng Xiaoyan, Cheng Xiaoli

Abstract excerpt

INTRODUCTION: Three variations including a novel F11 gene variation were detected in two unrelated Chinese families with coagulation factor XI deficiency, and their possible pathogenesis was elucidated. METHODS: The genomic DNA of the probands' pedigrees was extracted, and all exons and flanking sequences of F11 gene were subjected to PCR amplification and Sanger sequencing. ClustalX-2.1-win, Mutation Taster, and...

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PMID: 35850092
DOI: 10.1159/000526043

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