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  • Title: [Identification of a novel mutation of human blood coagulation FV gene associated with congenital FV deficiency].
    Author: Fu WJ, Hou J, Wang DX, Yu RQ.
    Journal: Zhonghua Xue Ye Xue Za Zhi; 2003 Mar; 24(3):119-21. PubMed ID: 12697120.
    Abstract:
    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 G5729T resulting in Gly1880Val was revealed in the proband and confirmed in the family screening. Structure-function studies of the factor V mutants (Gly1880Val) demonstrated the importance of Gly1880 for structural stability of the Factor V. CONCLUSION: G5729T mutation of FV gene is related to the pathogenesis of congenital FV deficiency.
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