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Journal Abstract Search

274 related items for PubMed ID: 20308231

  • 1. Molecular characterization of FXI deficiency.
    Berber E.
    Clin Appl Thromb Hemost; 2011 Feb; 17(1):27-32. PubMed ID: 20308231
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  • 3. Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.
    Guella I, Soldà G, Spena S, Asselta R, Ghiotto R, Tenchini ML, Castaman G, Duga S.
    Thromb Haemost; 2008 Mar; 99(3):523-30. PubMed ID: 18327400
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  • 4. A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency.
    Bozzao C, Rimoldi V, Asselta R, Landau M, Ghiotto R, Tenchini ML, De Cristofaro R, Castaman G, Duga S.
    FEBS J; 2007 Dec; 274(23):6128-38. PubMed ID: 17971173
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  • 5. Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools.
    Saunders RE, O'Connell NM, Lee CA, Perry DJ, Perkins SJ.
    Hum Mutat; 2005 Sep; 26(3):192-8. PubMed ID: 16086308
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  • 7. Characterization of seven novel mutations causing factor XI deficiency.
    Zucker M, Zivelin A, Landau M, Salomon O, Kenet G, Bauduer F, Samama M, Conard J, Denninger MH, Hani AS, Berruyer M, Feinstein D, Seligsohn U.
    Haematologica; 2007 Oct; 92(10):1375-80. PubMed ID: 18024374
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  • 10. A novel heterozygous missense mutation (His127Arg) in a family with inherited cross-reacting material positive factor XI deficiency.
    Castaman G, Giacomelli SH, Tagliaferri A, Rodeghiero F.
    Blood Coagul Fibrinolysis; 2013 Sep; 24(6):670-2. PubMed ID: 23571684
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  • 11. Prospective analysis of factor XI deficiencies in the Marseilles area identified four novel mutations among 12 consecutive unrelated families.
    Quélin F, Frère C, Pouymayou C, Morange P, de Mazancourt P, Juhan-Vague I.
    Blood Coagul Fibrinolysis; 2009 Jan; 20(1):84-8. PubMed ID: 20523169
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  • 12. Four novel FXI gene mutations in three factor XI- deficient patients.
    de Raucourt E, de Mazancourt P, Quélin F.
    Blood Coagul Fibrinolysis; 2008 Apr; 19(3):240-2. PubMed ID: 18388506
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  • 13. Congenital factor XI deficiency: an update.
    Duga S, Salomon O.
    Semin Thromb Hemost; 2013 Sep; 39(6):621-31. PubMed ID: 23929304
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  • 14. Molecular genetic analysis of the F11 gene in 14 Turkish patients with factor XI deficiency: identification of novel and recurrent mutations and their inheritance within families.
    Colakoglu S, Bayhan T, Tavil B, Keskin EY, Cakir V, Gümrük F, Çetin M, Aytaç S, Berber E.
    Blood Transfus; 2018 Jan; 16(1):105-113. PubMed ID: 27723456
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  • 15. Factor XI deficiency.
    Gomez K, Bolton-Maggs P.
    Haemophilia; 2008 Nov; 14(6):1183-9. PubMed ID: 18312365
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  • 16. New observations on factor XI deficiency.
    Salomon O, Seligsohn U.
    Haemophilia; 2004 Oct; 10 Suppl 4():184-7. PubMed ID: 15479396
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  • 17. Factor XI gene mutations in factor XI deficient patients of the Czech Republic.
    Castaman G, Giacomelli SH, Habart D, Asselta R, Duga S, Rodeghiero F.
    Am J Hematol; 2008 Dec; 83(12):916-9. PubMed ID: 18839438
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  • 19. Factor XI deficiency in Southern Iran: identification of a novel missense mutation.
    Karimi M, Jafari H, Lahsaeizadeh S, Afrasiabi A, Akbari A, Dehbozorgian J, Ardeshiri R, Guella I, Asselta R, Peyvandi F.
    Ann Hematol; 2009 Apr; 88(4):359-63. PubMed ID: 18758779
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  • 20. Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K).
    Quélin F, François D, d'Oiron R, Guillet B, de Raucourt E, de Mazancourt P.
    Haematologica; 2005 Aug; 90(8):1149-50. PubMed ID: 16079124
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