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Volumn 2, Issue 10, 2004, Pages 1724-1726

Is the assessment of von Willebrand disease prevalence an achievable challenge? The example of the French Basque Country where blood group O and factor XI deficiency are highly prevalent

Author keywords

Basques; Blood group O; Factor XI deficiency; Population genetics; von Willebrand disease

Indexed keywords

RISTOCETIN; VON WILLEBRAND FACTOR;

EID: 13244277501     PISSN: 15387933     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2004.00930.x     Document Type: Article
Times cited : (18)

References (12)
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    • Congenital von Willebrand disease type 1: Definition, phenotypes, clinical and laboratory assessment
    • Rodeghiero F, Castaman G. Congenital von Willebrand disease type 1: definition, phenotypes, clinical and laboratory assessment. Best Pract Res Clin Haematol 2001; 14: 321-35.
    • (2001) Best Pract. Res. Clin. Haematol. , vol.14 , pp. 321-335
    • Rodeghiero, F.1    Castaman, G.2
  • 2
    • 0037443406 scopus 로고    scopus 로고
    • von Willebrand disease type 1: A diagnosis in search of a disease
    • Sadler JE. von Willebrand disease type 1: a diagnosis in search of a disease. Blood 2003; 101: 2089-93.
    • (2003) Blood , vol.101 , pp. 2089-2093
    • Sadler, J.E.1
  • 6
    • 2342536397 scopus 로고    scopus 로고
    • Is there a 'Basque' profile regarding autosomal recessive deficiencies of coagulation factors?
    • Bauduer F, Ducout L, Degioanni A, Dutour O. Is there a 'Basque' profile regarding autosomal recessive deficiencies of coagulation factors? Haemophilia 2004; 10: 276-9.
    • (2004) Haemophilia , vol.10 , pp. 276-279
    • Bauduer, F.1    Ducout, L.2    Degioanni, A.3    Dutour, O.4
  • 7
    • 0036530032 scopus 로고    scopus 로고
    • Factor XI deficiency in Basques is predominantly caused by an ancestral C38R mutation in the factor XI gene
    • Zivelin A, Bauduer F, Ducout L, Peretz H, Rosenberg N, Yatuv R, Seligsohn U. Factor XI deficiency in Basques is predominantly caused by an ancestral C38R mutation in the factor XI gene. Blood 2002; 99: 2448-54.
    • (2002) Blood , vol.99 , pp. 2448-2454
    • Zivelin, A.1    Bauduer, F.2    Ducout, L.3    Peretz, H.4    Rosenberg, N.5    Yatuv, R.6    Seligsohn, U.7
  • 8
    • 0034532364 scopus 로고    scopus 로고
    • Identification of type 2 von Willebrand disease in previously diagnosed type 1 patients: A reappraisal using phenotypes, genotypes and molecular modelling
    • Nitu-Whalley IC, Riddell A, Lee CA, Pasi KJ, Owens D, Enayat MS, Perkins SJ, Jenkins PV. Identification of type 2 von Willebrand disease in previously diagnosed type 1 patients: a reappraisal using phenotypes, genotypes and molecular modelling. Thromb Haemost 2000; 84: 998-1004.
    • (2000) Thromb. Haemost. , vol.84 , pp. 998-1004
    • Nitu-Whalley, I.C.1    Riddell, A.2    Lee, C.A.3    Pasi, K.J.4    Owens, D.5    Enayat, M.S.6    Perkins, S.J.7    Jenkins, P.V.8
  • 9
    • 0036733501 scopus 로고    scopus 로고
    • Guidelines for the diagnosis and management of von Willebrand disease in Italy
    • Federici AB, Castaman G, Mannucci PM. Guidelines for the diagnosis and management of von Willebrand disease in Italy. Haemophilia 2002; 8: 607-21.
    • (2002) Haemophilia , vol.8 , pp. 607-621
    • Federici, A.B.1    Castaman, G.2    Mannucci, P.M.3
  • 11
    • 13244254845 scopus 로고    scopus 로고
    • Is there still a ABO and Rhesus blood groups specificity within the French Basque Country and the 'Aquitany perimeter' at the beginning of the 21st Century?
    • Bauduer F, Degioanni A, Desmoulins I, Hoyrup A, Cabantous A, Molinier C, Dutour O. Is there still a ABO and Rhesus blood groups specificity within the French Basque Country and the 'Aquitany perimeter' at the beginning of the 21st Century? Bull Mem Soc Anthropol Paris 2002; 14: 198-9.
    • (2002) Bull. Mem. Soc. Anthropol. Paris , vol.14 , pp. 198-199
    • Bauduer, F.1    Degioanni, A.2    Desmoulins, I.3    Hoyrup, A.4    Cabantous, A.5    Molinier, C.6    Dutour, O.7
  • 12
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    • Factor VIII and factor IX in a twin population: Evidence for a major effect of ABO locus on factor VIII level
    • Orstavik K, Magnus P, Reisner H, Berg K, Graham J, Nance W. Factor VIII and factor IX in a twin population: evidence for a major effect of ABO locus on factor VIII level. Am J Hum Genet 1985; 37: 89-101.
    • (1985) Am. J. Hum. Genet. , vol.37 , pp. 89-101
    • Orstavik, K.1    Magnus, P.2    Reisner, H.3    Berg, K.4    Graham, J.5    Nance, W.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.