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[Analysis on the novel compound heterozygous mutation FⅪ of a patient with hereditary factor Ⅺ deficiency].

Zhonghua yi xue za zhi - 26 Dec 2017

Xu K, Shu K Y, Li F F, Chen T, Liu J, Jin S S, Guo J J, Zhang Z H, Jiang M H

Abstract excerpt

Objective: To investigate the clinical phenotype and genotype characteristics of a Chinese hereditary factor Ⅺ deficiency pedigree. Methods: The activated partial thromboplastin time (APTT), prothrombin time (PT), FⅪ activity (FⅪ: C) were measured by clotting method using automatic coagulation analyzer. The FⅪ antigen (FⅪ: Ag) was assayed by enzyme-linked immunosorbent assay (ELISA). Fifteen exons of F11 from the...

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PMID: 29325334
DOI: 10.3760/cma.j.issn.0376-2491.2017.48.004

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