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- W2363472797 abstract "Objective To investigate the clinical phenotype and gene mutation for a pedigree with inherited antithrombin(AT) deficiency.Methods Immunonephelometry and chromogenic assay were used for detecting plasma level of AT antigen(AT:Ag) and AT activity(AT:A),respectively.All of the seven exons and their intron-exon boundaries of AT gene(SERPINC1)were amplified by PCR using the DNA extracted from the proband's peripheral blood,and PCR products were analyzed by direct sequencing.The corresponding gene fragment with mutations which found in proband was amplified from the DNA of family members and 100 healthy individuals and sequenced for pedigree analysis and polymorphism exclusion,respectively.Results The plasma levels of AT:Ag and AT:A of the proband were 114 mg/L and 54.8%,respectively.Two heterozygous missense mutations in exon 2 of AT gene(c.134GA and c.342TG) were found in the proband and some of his family members but were not found in 100 healthy individuals.Pedigree analyzed results revealed that the two mutations inherited from one allele.Conclusion The compound heterozygous mutations from one allele was the molecular mechanism of this pedigree with Type Ⅰ inherited antithrombin deficiency." @default.
- W2363472797 created "2016-06-24" @default.
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- W2363472797 date "2011-01-01" @default.
- W2363472797 modified "2023-09-26" @default.
- W2363472797 title "Compound Mutations in One Allele of AT Gene Causing Type I Inherited Antithrombin Deficiency" @default.
- W2363472797 hasPublicationYear "2011" @default.
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