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[FXI gene mutations in two pedigrees of congenital clotting factor XI deficiency].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Mar 2004

Wu Wen-Man, Ding Qiu-Lan, Wang Xue-Feng, Fu Qi-Hua, Wang Wen-Bin, Dai Jing, Fang Yi, Zhou Rong-Fu, Xie Shuang, Hu Yi-Qun, Sheng Zhi-Xiang, Wang Hong-Li, Wang Zhen-Yi

Abstract excerpt

OBJECTIVES: To identify the FXI gene mutations in two Chinese pedigrees of congenital factor XI deficiency. METHODS: The peripheral blood samples were collected from the probands and their family members and the plasma FXI:C and FXI:Ag were determined. All the exons and exon-intron boundries of FXI gene were amplified with PCR and sequenced thereafter. RESULTS: A nonsense mutation Trp228stop and two missense...

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PMID: 15182578

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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