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Volumn 83, Issue 5, 2006, Pages 462-463

Recurrent mutations of factor XI gene in Japanese [1]

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; BLOOD CLOTTING FACTOR 11; CYTOSINE; GLUTAMINE; GLYCINE; GUANINE; PHENYLALANINE; SERINE; THYMINE; VALINE;

EID: 33751053050     PISSN: 09255710     EISSN: None     Source Type: Journal    
DOI: 10.1532/IJH97.06045     Document Type: Letter
Times cited : (8)

References (12)
  • 1
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    • Coagulation factor XI: A database of mutations and polymorphisms associated with factor XI deficiency
    • Dossenbach-Glaninger A, Hopmeier P. Coagulation factor XI: a database of mutations and polymorphisms associated with factor XI deficiency. Blood Coagul Fibrinolysis. 2005;16:231-238.
    • (2005) Blood Coagul Fibrinolysis , vol.16 , pp. 231-238
    • Dossenbach-Glaninger, A.1    Hopmeier, P.2
  • 2
    • 0012992989 scopus 로고
    • Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations
    • Asakai R, Chung DW, Ratnoff OD, Davie EW. Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations. Proc Natl Acad Sci USA. 1989;86:7667-7671.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 7667-7671
    • Asakai, R.1    Chung, D.W.2    Ratnoff, O.D.3    Davie, E.W.4
  • 3
    • 0022252887 scopus 로고
    • Failure to detect variant (CRM+) plasma thromboplastin antecedent (factor XI) molecules in heredity plasma thromboplastin antecedent deficiency: A study of 125 patients of several ethnic backgrounds
    • Saito H, Ratnoff OD, Bouma BN, Seligsohn U. Failure to detect variant (CRM+) plasma thromboplastin antecedent (factor XI) molecules in heredity plasma thromboplastin antecedent deficiency: a study of 125 patients of several ethnic backgrounds. J Lab Clin Med. 1985;106:718-722.
    • (1985) J Lab Clin Med , vol.106 , pp. 718-722
    • Saito, H.1    Ratnoff, O.D.2    Bouma, B.N.3    Seligsohn, U.4
  • 4
    • 0029021380 scopus 로고
    • A quantitative protein S deficiency associated with a novel nonsense mutation and markedly reduced levels of mutated mRNA
    • Yamazaki T, Hamaguchi M, Katsumi A, et al. A quantitative protein S deficiency associated with a novel nonsense mutation and markedly reduced levels of mutated mRNA. Thromb Haemost. 1995;74:590-595.
    • (1995) Thromb Haemost , vol.74 , pp. 590-595
    • Yamazaki, T.1    Hamaguchi, M.2    Katsumi, A.3
  • 5
    • 0032525105 scopus 로고    scopus 로고
    • The carboxyl-terminal region of protein C is essential for its secretion
    • Katsumi A, Kojima T, Senda T, et al. The carboxyl-terminal region of protein C is essential for its secretion. Blood. 1998;91:3784-3791.
    • (1998) Blood , vol.91 , pp. 3784-3791
    • Katsumi, A.1    Kojima, T.2    Senda, T.3
  • 6
    • 3042715266 scopus 로고    scopus 로고
    • Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain
    • Kravtsov DV, Wu W, Meijers JC, et al. Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. Blood. 2004;104:128-134.
    • (2004) Blood , vol.104 , pp. 128-134
    • Kravtsov, D.V.1    Wu, W.2    Meijers, J.C.3
  • 7
    • 18944364640 scopus 로고    scopus 로고
    • Three novel point mutations that cause severe factor XI deficiency in two unrelated Japanese families
    • Morishita E, Kuroda K, Ohtake S, et al. Three novel point mutations that cause severe factor XI deficiency in two unrelated Japanese families. J Thromb Haemost. 2003;1(suppl 1):P1211d.
    • (2003) J Thromb Haemost , vol.1 , Issue.SUPPL. 1
    • Morishita, E.1    Kuroda, K.2    Ohtake, S.3
  • 8
    • 33751031310 scopus 로고    scopus 로고
    • Functional analysis of two recombinant missense mutant factor XI, F221S and C212R
    • Kuroda K, Morishita E, Hirano K, et al. Functional analysis of two recombinant missense mutant factor XI, F221S and C212R. J Thromb Haemost. 2005;3(suppl 1):P1313.
    • (2005) J Thromb Haemost , vol.3 , Issue.SUPPL. 1
    • Kuroda, K.1    Morishita, E.2    Hirano, K.3
  • 9
    • 3643083098 scopus 로고    scopus 로고
    • Cross-reacting material positive (CRM+) factor XI deficiency. Factor XI Yamagata, with a GT to at transition at donor splicing site in intron J of the factor XI gene
    • Hayashi T, Satoh S, Suzuki K, Yahagi M, Yoshino M, Sasaki H. Cross-reacting material positive (CRM+) factor XI deficiency. Factor XI Yamagata, with a GT to AT transition at donor splicing site in intron J of the factor XI gene. Thromb Haemost. 1997; 78(suppl):PS1883.
    • (1997) Thromb Haemost , vol.78 , Issue.SUPPL.
    • Hayashi, T.1    Satoh, S.2    Suzuki, K.3    Yahagi, M.4    Yoshino, M.5    Sasaki, H.6
  • 11
    • 0042810684 scopus 로고    scopus 로고
    • Compound heterozygosity for two novel mutations in a severe factor XI deficiency
    • Tsukahara A, Yamada T, Takagi A, et al. Compound heterozygosity for two novel mutations in a severe factor XI deficiency. Am J Hematol. 2003;73:279-284.
    • (2003) Am J Hematol , vol.73 , pp. 279-284
    • Tsukahara, A.1    Yamada, T.2    Takagi, A.3
  • 12
    • 0023043178 scopus 로고
    • Amino acid sequence of human factor XI, a blood coagulation factor with four tandem repeats that are highly homologous with plasma prekallikrein
    • Fujikawa K, Chung DW, Hendrickson LE, Davie EW. Amino acid sequence of human factor XI, a blood coagulation factor with four tandem repeats that are highly homologous with plasma prekallikrein. Biochemistry. 1986;25:2417-2424.
    • (1986) Biochemistry , vol.25 , pp. 2417-2424
    • Fujikawa, K.1    Chung, D.W.2    Hendrickson, L.E.3    Davie, E.W.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.