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[Analysis of a pedigree with inherited factor V deficiency caused by compound heterozygous mutation].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 14 Feb 2021

Guo Y L, Kong W Z, Wan Q, Zheng W J Y, Xi J Q, Liu S Q, Wang M S, Jin Y H

Abstract excerpt

Objective: To explore the molecular pathogenesis of a family with hereditary factor Ⅴ (FⅤ) deficiency. Methods: All the exons, flanking sequences, 5' and 3' untranslated regions of the F5 of the proband, and the corresponding mutation sites of the family members were analyzed via direct DNA sequencing. The CAT measurement was used to detect the amount of thrombin produced. The ClustalX software was used to...

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Exons
Factor V Deficiency
Heterozygote
Mutation
Pedigree

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PMID: 33858044
DOI: 10.3760/cma.j.issn.0253-2727.2021.02.008
PMCID: PMC8071673

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