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Volumn 88, Issue 12, 2003, Pages 1434-1436

The Gly331Ser mutation in factor VII in Europe and the Middle East

Author keywords

CRM+ FVII deficiency; Founder effect; Mutation

Indexed keywords

ARGININE; GLYCINE; HISTIDINE; RECOMBINANT BLOOD CLOTTING FACTOR 7A; SERINE;

EID: 0347363714     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (8)

References (10)
  • 1
    • 0036040213 scopus 로고    scopus 로고
    • Factor VII deficiency
    • Perry DJ. Factor VII deficiency. Br J Haematol 2002;118:689-700.
    • (2002) Br J Haematol , vol.118 , pp. 689-700
    • Perry, D.J.1
  • 3
    • 0037082445 scopus 로고    scopus 로고
    • Residual factor VII activity and different hemorrhagic phenotypes in CRM(+) factor VII deficiencies (Gly331Ser and Gly283Ser)
    • Pinotti M, Etro D, Bindini D, Papa ML, Rodorigo G, Rocino A, et al. Residual factor VII activity and different hemorrhagic phenotypes in CRM(+) factor VII deficiencies (Gly331Ser and Gly283Ser). Blood 2002;99:1495-7.
    • (2002) Blood , vol.99 , pp. 1495-1497
    • Pinotti, M.1    Etro, D.2    Bindini, D.3    Papa, M.L.4    Rodorigo, G.5    Rocino, A.6
  • 4
    • 0026730351 scopus 로고
    • Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7)
    • Marchetti G, Patracchini P, Gemmati D, DeRosa V, Pinotti M, Rodorigo G, et al. Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7). Hum Genet 1992;89:497-502.
    • (1992) Hum Genet , vol.89 , pp. 497-502
    • Marchetti, G.1    Patracchini, P.2    Gemmati, D.3    DeRosa, V.4    Pinotti, M.5    Rodorigo, G.6
  • 5
    • 0028260648 scopus 로고
    • Topologically equivalent mutations causing dysfunctional coagulation factors VII (Ala294Val) and X (Ser334Pro)
    • Bernardi F, Castman G, Redaelli R, Pinotti M, Lunghi B, Rodighiero, et al. Topologically equivalent mutations causing dysfunctional coagulation factors VII (Ala294Val) and X (Ser334Pro). Hum Mol Gen 1994;3:1175-7.
    • (1994) Hum Mol Gen , vol.3 , pp. 1175-1177
    • Bernardi, F.1    Castman, G.2    Redaelli, R.3    Pinotti, M.4    Lunghi, B.5    Rodighiero6
  • 6
    • 0025871447 scopus 로고
    • Purification and characterization of FVII-304 Gln: A variant molecule with reduced activity isolated from a clinically unaffected male
    • O'Brien DP, Gale KM, Anderson JS, McVey JH, Meade T, Miller G, et al. Purification and characterization of FVII-304 Gln: a variant molecule with reduced activity isolated from a clinically unaffected male. Blood 1991;78:132-40.
    • (1991) Blood , vol.78 , pp. 132-140
    • O'Brien, D.P.1    Gale, K.M.2    Anderson, J.S.3    McVey, J.H.4    Meade, T.5    Miller, G.6
  • 9
    • 0034014672 scopus 로고    scopus 로고
    • A novel polymorphism in intron 1a of the human factor VII gene (G73A): Study of a healthy Italian population and of 190 young survivors of myocardial infarction
    • Peyvandi F, Mannucci PM, Bucciarelli P, Zeinali S, Akhavan S, Sacchi E, et al. A novel polymorphism in intron 1a of the human factor VII gene (G73A): study of a healthy Italian population and of 190 young survivors of myocardial infarction. Br J Haematol 2000;108:247-53.
    • (2000) Br J Haematol , vol.108 , pp. 247-253
    • Peyvandi, F.1    Mannucci, P.M.2    Bucciarelli, P.3    Zeinali, S.4    Akhavan, S.5    Sacchi, E.6
  • 10
    • 0025860324 scopus 로고
    • A common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals
    • Green F, Kelleher C, Wilkes H, Temple A, Meade T, Humphries S. A common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals. Arterioscler Thromb 1991;11:540-6.
    • (1991) Arterioscler Thromb , vol.11 , pp. 540-546
    • Green, F.1    Kelleher, C.2    Wilkes, H.3    Temple, A.4    Meade, T.5    Humphries, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.