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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.1
- 수록면
- 182 - 184 (3page)
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초록· 키워드
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Dear Editor, Deficiencies of coagulation factors such as fibrinogen and factors II, V, V + VIII, VII, X, XI, and XIII are called rare bleeding disorders (RBDs). Congenital factor V (FV) deficiency is caused by mutations in F5, which is located on chromosome 1q24, and accounts for about 8% of all RBDs. FV is important for modulating thrombin production. Organization of FV is highly homologous to that of factor VIII. Clinical manifestations of FV deficiency (FVD) are diverse, ranging from life threatening to asymptomatic, even among patients with severe deficiency. FVD is suspected by prolonged prothrombin time (PT) and activated partial thromboplastin time (aPTT) that are corrected on mixing tests and is diagnosed by a significantly decreased FV activity. We described genetically confirmed FVD cases in two unrelated Korean families and reviewed previous cases of FVD in Korea.
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등록된 정보가 없습니다.
참고문헌 (10)
참고문헌 신청
Liu HC / 2014 / Asp68His mutation in the A1 domain of human factor V causes impaired secretion and ineffective translocation / Haemophilia 20:e318~e326
Huang DD / 2010 / Analysis of phenotype and genotype in four Chinese pedigrees with inherited coagulation factor V deficiency / Zhonghua Xue Ye Xue Za Zhi 31:149~153
Song J / 2009 / A novel in-frame deletion in the factor V C1 domain associated with severe coagulation factor V deficiency in a Korean family / Blood Coagul Fibrinolysis 20:150~156
Cao LJ / 2008 / Gene analysis of five inherited factor V deficiency cases / Zhonghua Xue Ye Xue Za Zhi 29:145~148
Thalji N / 2013 / Parahemophilia: new insights into factor v deficiency / Semin Thromb Hemost 39:607~612
Huang DD / 2010 / Analysis of phenotype and genotype in four Chinese pedigrees with inherited coagulation factor V deficiency / Zhonghua Xue Ye Xue Za Zhi 31:149~153
Song J / 2009 / A novel in-frame deletion in the factor V C1 domain associated with severe coagulation factor V deficiency in a Korean family / Blood Coagul Fibrinolysis 20:150~156
Cao LJ / 2008 / Gene analysis of five inherited factor V deficiency cases / Zhonghua Xue Ye Xue Za Zhi 29:145~148
Thalji N / 2013 / Parahemophilia: new insights into factor v deficiency / Semin Thromb Hemost 39:607~612
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