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[Analysis of Emerging Gene Variant and Molecular Mechanism Study of a Patient with Inherited FXI Deficiency].

Zhongguo shi yan xue ye xue za zhi - 1 Apr 2026

Yu Ya-Lin, Li Bing-Xian, Fu Dong-Yan, Wang Lei, Zhao Jiao-Yu, Ren Juan, Wang Duan-Yang, Cao Pei-Qi, Yang Lin-Hua, Wang Gang

Abstract excerpt

OBJECTIVE: To investigate the pathogenic mechanisms in a patient with coagulation factor Ⅺ (FⅪ) deficiency caused by a de novo F11 gene mutation. METHODS: Next generation sequencing （NGS） was used to identify the mutation sites combined with Sanger sequencing. Patients were tested for coagulation factor Ⅺ activity (FⅪ:C) and coagulation factor Ⅺ antigen (FⅪ:Ag). Predict the mutation pathogenicity conservatism by...

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PMID: 42227448
DOI: 10.19746/j.cnki.issn1009-2137.2026.02.029

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F11

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