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- W2392351728 abstract "Objective To discover the gene mutations of a pedigree with inherited coagulation factor X(FX)deficiency.Methods The activated partial thromboplastin time(APTT),prothrombin time(PT)and FX ac-tivity(FX:C)test were adopted for phenotype diagnosis.The genomic DNA was extracted from the peripheral blood of the proposita.All the8exons,intron/exon boundaries and the5'untranslated regions(UTR)of the FX gene were amplified by polymerase chain reaction(PCR).The PCR products were screened by direct sequencing.The other4persons in the pedigree were examined too.Results Taking the FX nucleotide sequence published by Leytus as the reference,totally three variations in the FX gene have been found in the proposita.The missense mutation is a homozygous C1098T subtitution on exon8.Conclusions The FX deficiency of the proposita is caused by a homozygous Thr318to Met mutation in the FX gene." @default.
- W2392351728 created "2016-06-24" @default.
- W2392351728 creator A5084138890 @default.
- W2392351728 date "2003-01-01" @default.
- W2392351728 modified "2023-09-27" @default.
- W2392351728 title "Factor X Deficiency Resulted From a Missense Mutation Thr318Met in the FX Gene" @default.
- W2392351728 hasPublicationYear "2003" @default.
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