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[The analysis of a pedigree with hereditary coagulation factor Ⅴ deficiency caused by compound heterozygous variation of F5 gene].

Zhonghua yi xue za zhi - 9 May 2023

Cheng X L, Yang T, Yang L, Xin Y J, He M, Zhu L, Liu J Y

Abstract excerpt

Objective: To analyze the gene variation of a genetic coagulation factor Ⅴ (FⅤ) deficiency pedigree and explore the molecular pathogenesis. Methods: The proband was a 32 years old female. The patient was prone to nose bleeding since childhood which was usually self-healed. On March 10, 2021, the proband went to the First Affiliated Hospital of Air Force Medical University for treatment of knee hematoma caused by...

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Child
Factor V
Factor V Deficiency
Heterozygote
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Partial Thromboplastin Time

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PMID: 37150682
DOI: 10.3760/cma.j.cn112137-20220828-01821

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