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Journal Abstract Search

256 related items for PubMed ID: 23571684

  • 1. 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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  • 7. Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency.
    Saunders RE, Shiltagh N, Gomez K, Mellars G, Cooper C, Perry DJ, Tuddenham EG, Perkins SJ.
    Thromb Haemost; 2009 Aug; 102(2):287-301. PubMed ID: 19652879
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  • 8. Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency.
    Quélin F, Mathonnet F, Potentini-Esnault C, Trigui N, Peynet J, Bastenaire B, Guillon L, Bigel ML, Sauger A, Mazurier C, de Mazancourt P.
    Blood Coagul Fibrinolysis; 2006 Jan; 17(1):69-73. PubMed ID: 16607084
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  • 9. 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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  • 11. Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency.
    Tirefort Y, Uhr MR, Neerman-Arbez M, de Moerloose P.
    Blood Coagul Fibrinolysis; 2012 Apr; 23(3):251-2. PubMed ID: 22322133
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  • 12. Genetic analysis in Factor XI deficient patients from central China: identification of one novel and seven recurrent mutations.
    Liu H, Wang HF, Tang L, Yang Y, Wang QY, Zeng W, Wu YY, Cheng ZP, Hu B, Guo T, Hu Y.
    Gene; 2015 Apr 25; 561(1):101-6. PubMed ID: 25681615
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  • 13. 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 25; 16(1):105-113. PubMed ID: 27723456
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  • 15. 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 25; 92(10):1375-80. PubMed ID: 18024374
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  • 17. Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation.
    Quélin F, Trossaërt M, Sigaud M, Mazancourt PD, Fressinaud E.
    J Thromb Haemost; 2004 Jan 25; 2(1):71-6. PubMed ID: 14717969
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  • 18. Combined Congenital Hypodysfibrinogemia and Factor XI Deficiency in a Chinese Family.
    Peng Y, Nie L, Qin C, Wan L, Zhou P.
    Acta Haematol; 2020 Jan 25; 143(5):472-477. PubMed ID: 31982874
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  • 20. Gene Variants in Two Families with Inherited Coagulation Factor XI Deficiency and Identification of Mutations.
    Jiang S, Chen Y, Liu M, Zeng M, Yang L, Jin Y, Jia K, Wang M.
    Acta Haematol; 2023 Jan 25; 146(2):106-116. PubMed ID: 36543159
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