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[Identification of a novel mutation of human blood coagulation FV gene associated with congenital FV deficiency].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Mar 2003

Fu Wei-jun, Hou Jian, Wang Dong-xing, Yu Run-quan

Abstract excerpt

OBJECTIVE: To explore the molecular mechanisms involved in the patient with congenital FV deficiency. METHODS: Activity of FV was determined by biochemical method. The PCR products of FV gene was analysed by directly sequencing or sequencing after cloned into T-vector. The mutative FV gene was analysed by restriction enzyme analysis in the proband and her family members. RESULTS: A homozygous missense mutation...

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PMID: 12697120

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