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Volumn 100, Issue 4, 2008, Pages 716-718

Is VWF R924Q a benign polymorphism, a marker of a null allele or a factor VIII-binding defect? The debate continues with results from the UKHCDO VWD study

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; BLOOD CLOTTING FACTOR 8; VON WILLEBRAND FACTOR;

EID: 54949115050     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH08-04-0263     Document Type: Letter
Times cited : (7)

References (9)
  • 1
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    • Hilbert L, Jorieux S, Proulle V, et al. Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacity. Br J Haematol 2003; 120: 627-632.
    • (2003) Br J Haematol , vol.120 , pp. 627-632
    • Hilbert, L.1    Jorieux, S.2    Proulle, V.3
  • 2
    • 33747103062 scopus 로고    scopus 로고
    • R924Q substitution encoded within exon 21 of the von Willebrand factor gene related to mild bleeding phenotype
    • Casais P, Carballo GA, Woods AI, et al. R924Q substitution encoded within exon 21 of the von Willebrand factor gene related to mild bleeding phenotype. Thromb. Haemost 2006; 96: 228-230.
    • (2006) Thromb. Haemost , vol.96 , pp. 228-230
    • Casais, P.1    Carballo, G.A.2    Woods, A.I.3
  • 3
    • 33846026307 scopus 로고    scopus 로고
    • The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study
    • James PD, Notley C, Hegadorn C, et al. The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study. Blood 2007; 109: 145-154.
    • (2007) Blood , vol.109 , pp. 145-154
    • James, P.D.1    Notley, C.2    Hegadorn, C.3
  • 4
    • 33845967766 scopus 로고    scopus 로고
    • Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)
    • Goodeve A, Eikenboom J, Castaman G, et al. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). Blood 2007; 109: 112-121.
    • (2007) Blood , vol.109 , pp. 112-121
    • Goodeve, A.1    Eikenboom, J.2    Castaman, G.3
  • 5
    • 33751219230 scopus 로고    scopus 로고
    • An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease
    • Cumming A, Grundy P, Keeney S, et al. An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. Thromb Haemost 2006; 96: 630-641.
    • (2006) Thromb Haemost , vol.96 , pp. 630-641
    • Cumming, A.1    Grundy, P.2    Keeney, S.3
  • 6
    • 0027433113 scopus 로고
    • Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
    • Ganguly A, Rock M J, Prockop D J. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 1993; 90: 10325-10329.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 10325-10329
    • Ganguly, A.1    Rock, M.J.2    Prockop, D.J.3
  • 7
    • 0038156292 scopus 로고    scopus 로고
    • Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease
    • O'Brien L A, James P D, Othman M, et al. Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease. Blood 2003; 102: 549-557.
    • (2003) Blood , vol.102 , pp. 549-557
    • O'Brien, L.A.1    James, P.D.2    Othman, M.3
  • 8
    • 0024421194 scopus 로고
    • Heterogeneous phenotypes of platelet and plasma von Willebrand factor in obligatory heterozygotes for severe von Willebrand disease
    • Mannucci P M, Lattuada A, Castaman G, et al. Heterogeneous phenotypes of platelet and plasma von Willebrand factor in obligatory heterozygotes for severe von Willebrand disease. Blood 1989; 74: 2433-2436.
    • (1989) Blood , vol.74 , pp. 2433-2436
    • Mannucci, P.M.1    Lattuada, A.2    Castaman, G.3
  • 9
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    • A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele
    • Peerlinck K, Eikenboom J C, Ploos van Amstel H K, et al. A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele. Br J. Haematol 1992; 80: 358-363.
    • (1992) Br J. Haematol , vol.80 , pp. 358-363
    • Peerlinck, K.1    Eikenboom, J.C.2    Ploos van Amstel, H.K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.