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Volumn 5, Issue 3, 2007, Pages 626-628

Severe coagulation factor V deficiency associated with an interstitial deletion of chromosome 1q [7]

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5; GENOMIC DNA;

EID: 34247594367     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2007.02363.x     Document Type: Letter
Times cited : (12)

References (10)
  • 1
    • 0142183357 scopus 로고    scopus 로고
    • Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations
    • Montefusco MC, Duga S, Asselta R, Malcovati M, Peyvandi F, Santagostino E, Mannucci PM, Tenchini ML. Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations. Blood 2003; 102: 3210-6.
    • (2003) Blood , vol.102 , pp. 3210-3216
    • Montefusco, M.C.1    Duga, S.2    Asselta, R.3    Malcovati, M.4    Peyvandi, F.5    Santagostino, E.6    Mannucci, P.M.7    Tenchini, M.L.8
  • 3
    • 33644854287 scopus 로고    scopus 로고
    • Inherited defects of coagulation factor V: The hemorrhagic side
    • Asselta R, Tenchini ML, Duga S. Inherited defects of coagulation factor V: The hemorrhagic side. J Thromb Haemost 2006; 4: 26-34.
    • (2006) J Thromb Haemost , vol.4 , pp. 26-34
    • Asselta, R.1    Tenchini, M.L.2    Duga, S.3
  • 6
    • 0032847937 scopus 로고    scopus 로고
    • Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: Factor V Stanford
    • Zehnder JL, Hiraki DD, Jones CD, Gross N, Grumet FC. Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: Factor V Stanford. Thromb Haemost 1999; 82: 1097-9.
    • (1999) Thromb Haemost , vol.82 , pp. 1097-1099
    • Zehnder, J.L.1    Hiraki, D.D.2    Jones, C.D.3    Gross, N.4    Grumet, F.C.5
  • 7
    • 0035892811 scopus 로고    scopus 로고
    • A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency
    • Pallotta R, Dalpra L, Miozzo M, Ehresmann T, Fusilli P. A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency. Am J Med Genet 2001; 104: 282-6.
    • (2001) Am J Med Genet , vol.104 , pp. 282-286
    • Pallotta, R.1    Dalpra, L.2    Miozzo, M.3    Ehresmann, T.4    Fusilli, P.5
  • 8
    • 2642679231 scopus 로고    scopus 로고
    • Structural investigation of the A domains of human blood coagulation factor V by molecular modeling
    • Villoutreix BO, Dahlback B. Structural investigation of the A domains of human blood coagulation factor V by molecular modeling. Protein Sci 1998; 7: 1317-25.
    • (1998) Protein Sci , vol.7 , pp. 1317-1325
    • Villoutreix, B.O.1    Dahlback, B.2
  • 9
    • 0035128904 scopus 로고    scopus 로고
    • Porcine factor V: cDNA cloning, gene mapping, three-dimensional protein modeling of membrane binding sites and comparative anatomy of domains
    • Grimm DR, Colter MB, Braunschweig M, Alexander LJ, Neame PJ, Kim HK. Porcine factor V: CDNA cloning, gene mapping, three-dimensional protein modeling of membrane binding sites and comparative anatomy of domains. Cell Mol Life Sci 2001; 58: 148-59.
    • (2001) Cell Mol Life Sci , vol.58 , pp. 148-159
    • Grimm, D.R.1    Colter, M.B.2    Braunschweig, M.3    Alexander, L.J.4    Neame, P.J.5    Kim, H.K.6
  • 10
    • 0037089230 scopus 로고    scopus 로고
    • 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.
    • (2002) Blood , vol.99 , pp. 3063-3065
    • Schrijver, I.1    Koerper, M.A.2    Jones, C.D.3    Zehnder, J.L.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.