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Volumn 9, Issue 5, 2003, Pages 646-649

Type I coagulation factor V deficiency caused by compound heterozygous mutation of F5 gene

Author keywords

Coagulation factor V; Deficiency; Gene mutation

Indexed keywords

ADENINE; BLOOD CLOTTING FACTOR 5; CYSTINE; GLYCINE; GUANINE;

EID: 0141955839     PISSN: 13518216     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2516.2003.00800.x     Document Type: Article
Times cited : (9)

References (12)
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  • 2
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  • 3
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  • 4
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  • 5
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    • Severe coagulation factor V deficiency caused by 2 novel frameshift mutations: 2952delT in exon 13 and 5493insG in exon 16 of factor 5 gene
    • Ajzner E, Balogh I, Szabo T, Marosi A, Haramura G, Muszbek L. Severe coagulation factor V deficiency caused by 2 novel frameshift mutations: 2952delT in exon 13 and 5493insG in exon 16 of factor 5 gene. Blood 2002; 99: 702-5.
    • (2002) Blood , vol.99 , pp. 702-705
    • Ajzner, E.1    Balogh, I.2    Szabo, T.3    Marosi, A.4    Haramura, G.5    Muszbek, L.6
  • 6
    • 0035880234 scopus 로고    scopus 로고
    • Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency
    • Van Wijk R, Nieuwenhuis K, van de Berg M et al. Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency. Blood 2001; 98: 358-67.
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  • 7
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    • Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency
    • Van Wijk R, Montefusco MC, Duga S et al. Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency. Br J Haematol 2001; 114: 871-4.
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  • 8
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    • Homozygous factor V splice site mutation associated with severe factor V deficiency
    • Schrijver I, Koerper MA, Jones CD, Zehnder JL. Homozygous factor V splice site mutation associated with severe factor V deficiency. Blood 2002; 99: 3063-5.
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  • 9
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  • 10
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    • Castold E, Simioni P, Kalafatis M et al. Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase complex in a thrombophilic family. Blood 2000; 96: 1443-48.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.