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- W2593742513 abstract "Abstract Abstract 4210 To detect the gene mutation of a pedigree with coagulation factor XII (FXII) deficiency. Methods The peripheral blood samples were collected from the proband and his parents, and the plasma FXII:C were determined. All the exons and exon-intron boundries of F12 gene were amplified with PCR and sequenced directly. Results The activity of FXII were 52.5%, 78.6% and 89% for the proband, his father and mother, respectively. Direct sequencing suggested that the proband was 46 T/T genotype in exon1, while both his parents were 46 C/T genotype in the same alle. No other base change was detected in F12 gene. Conclusion The 46 T/T polymorphism of F12 gene might be the cause of FXII:C deficiency for the propositus. Disclosures: No relevant conflicts of interest to declare." @default.
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- W2593742513 date "2009-11-20" @default.
- W2593742513 modified "2023-09-29" @default.
- W2593742513 title "Analysis of the Coagulation Factor XII 46 C/T Polymorphism in a Pedigree and Related Literature Review." @default.
- W2593742513 doi "https://doi.org/10.1182/blood.v114.22.4210.4210" @default.
- W2593742513 hasPublicationYear "2009" @default.
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