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J Clin Lab Anal ; 36(5): e24349, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35349734

RESUMO

BACKGROUND: Congenital factor VII (FVII) deficiency is a rare inherited autosomal recessive disorder characterized by prolongation of prothrombin time and low FVII coagulation activity, which may increase the risk of bleeding. CASE PRESENTATION: A 66-year-old man with acute postoperative intracranial hemorrhage was transferred to our hospital owing to coagulation dysfunction. In coagulation tests, the FVII coagulation activity was less than 2%. Genetic analysis of the gene encoding FVII identified compound heterozygous mutations: c. 681+1 G>T and c. C1286T (p. Ala429Val). CONCLUSIONS: To our knowledge, this is the first report describing the c. C1286T (p. Ala429Val) mutation in the FVII-encoding gene. We suggest that these mutations resulted in the reduced FVII activity and abnormal clotting in our patient after brain surgery.


Assuntos
Deficiência do Fator VII , Idoso , Fator VII/genética , Deficiência do Fator VII/complicações , Deficiência do Fator VII/genética , Heterozigoto , Humanos , Masculino , Mutação/genética , Tempo de Protrombina
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