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- W4385376029 abstract "Abstract Objective Our study aimed to analyze the phenotype and genotype of a pedigree with inherited dysfibrinogenemia, and preliminarily elucidate the probable pathogenesis. Methods The one-stage clotting method was used to test the fibrinogen activity (FIB:C), whereas immunoturbidimetry was performed to quantify the fibrinogen antigen (FIB:Ag). Furthermore, DNA sequence analysis was conducted to confirm the site of mutation. Conservation analysis and protein model analysis were performed using online bioinformatics software. Results The FIB:C and FIB:Ag of the proband were 1.28 and 2.20 g/L, respectively. Gene analysis revealed a heterozygous c.293C > A (p.BßAla68Asp) mutation in FGB. Bioinformatics and modeling analysis suggested that the missense mutation could potentially have a deleterious effect on fibrinogen. Conclusion The BßAla68Asp mutation in exon 2 of FGB may account for the reduced FIB:C levels observed in the pedigree. To our knowledge, this point mutation is the first report in the world." @default.
- W4385376029 created "2023-07-30" @default.
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- W4385376029 date "2023-07-29" @default.
- W4385376029 modified "2023-09-27" @default.
- W4385376029 title "A Novel Fibrinogen Mutation p.BßAla68Asp Causes an Inherited Dysfibrinogenemia" @default.
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- W4385376029 doi "https://doi.org/10.1055/a-2116-8957" @default.
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