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Cys482Trp Missense Mutation in the Coagulation Factor XI Gene (F11) in a Korean Patient with Factor XI Deficiency

최성준 김주원 이경아 최종락 유종하 2014년

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' Cys482Trp Missense Mutation in the Coagulation Factor XI Gene (F11) in a Korean Patient with Factor XI Deficiency' 의 주제별 논문영향력
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' Cys482Trp Missense Mutation in the Coagulation Factor XI Gene (F11) in a Korean Patient with Factor XI Deficiency' 의 참고문헌

  • Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations
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  • Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene
    Kwon MJ Blood Coagul Fibrinolysis 19 679-683 [2008]
  • Recurrent mutations of factor XI gene in Japanese
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  • Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect
    김주원 CLINICAL GENETICS 82 2 180-186 [2012]
  • Organization of the gene for human factor XI
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  • New hemophilia-like disease caused by deficiency of a third plasma thromboplastin factor
    Rosenthal RL Proc Soc Exp Biol Med 82 171-174 [1953]
  • Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation
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  • A novel F11 mutation in a Korean pediatric patient with recurrent epistaxis
    Kim J Blood Coagul Fibrinolysis 24 433-435 [2013]
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  • A case of factor XI deficiency caused by compound heterozygous F11 gene mutation
    Wang J Haemophilia 15 603-606 [2009]
  • A Novel Missense Mutation Asp506Gly in Exon 13 of the F11 Gene in an Asymptomatic Korean Woman with Mild Factor XI Deficiency
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