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Gene Variants in Two Families with Inherited Coagulation Factor XI Deficiency and Identification of Mutations.

Acta haematologica - 1 Jan 2023

Jiang Shuting, Chen Yuan, Liu Meina, Zeng Manlin, Yang Lihong, Jin Yanhui, Jia Kaiqi, Wang Mingshan

Abstract excerpt

INTRODUCTION: Mutations in the F11 gene can cause factor XI (FXI) deficiency, leading to abnormal coagulation activity and injury-related bleeding tendency. Therefore, identifying F11 gene mutations and studying the molecular basis will help us understand the pathogenesis of FXI deficiency. METHODS: Coagulation tests and gene sequencing analysis of all members were performed. FXI wild-type and mutant expression...

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PMID: 36543159
DOI: 10.1159/000528583

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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