메뉴 건너뛰기




Volumn 104, Issue 8, 2004, Pages 2394-2396

An Alu-mediated 31.5-kb deletion as the cause of factor XI deficiency in 2 unrelated patients

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 11;

EID: 4944221562     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2004-04-1318     Document Type: Article
Times cited : (10)

References (17)
  • 1
    • 0038056180 scopus 로고    scopus 로고
    • Proteases in blood clotting
    • Walsh PN, Ahmad SS. Proteases in blood clotting. Essays Biochem. 2002;38:95-111.
    • (2002) Essays Biochem , vol.38 , pp. 95-111
    • Walsh, P.N.1    Ahmad, S.S.2
  • 2
    • 0034911688 scopus 로고    scopus 로고
    • Roles of platelets and factor XI in the initiation of blood coagulation by thrombin
    • Walsh PN. Roles of platelets and factor XI in the initiation of blood coagulation by thrombin. Thromb Haemost. 2001;86:75-82.
    • (2001) Thromb Haemost , vol.86 , pp. 75-82
    • Walsh, P.N.1
  • 3
    • 0037064001 scopus 로고    scopus 로고
    • The interaction of factor XIa with activated platelets but not endothelial cells promotes the activation of factor IX in the consolidation phase of blood coagulation
    • Baird TR, Walsh PN. The interaction of factor XIa with activated platelets but not endothelial cells promotes the activation of factor IX in the consolidation phase of blood coagulation. J Biol Chem. 2002;277:38462-38467.
    • (2002) J Biol Chem , vol.277 , pp. 38462-38467
    • Baird, T.R.1    Walsh, P.N.2
  • 4
    • 0024787112 scopus 로고
    • Factor XI gene (F11) is located on the distal end of the long arm of human chromosome 4
    • Kato A, Asakai R, Davie EW, Aoki N. Factor XI gene (F11) is located on the distal end of the long arm of human chromosome 4. Cytogenet Cell Genet. 1989;52:77-78.
    • (1989) Cytogenet Cell Genet , vol.52 , pp. 77-78
    • Kato, A.1    Asakai, R.2    Davie, E.W.3    Aoki, N.4
  • 5
    • 0023515093 scopus 로고
    • Organisation of the gene for human factor XI
    • Asakai R, Davie EW, Chung DW. Organisation of the gene for human factor XI. Biochemistry. 1987; 26:7221-7228.
    • (1987) Biochemistry , vol.26 , pp. 7221-7228
    • Asakai, R.1    Davie, E.W.2    Chung, D.W.3
  • 6
    • 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 U S A. 1989;86:7667-7671.
    • (1989) Proc Natl Acad Sci U S A , vol.86 , pp. 7667-7671
    • Asakai, R.1    Chung, D.W.2    Ratnoff, O.D.3    Davie, E.W.4
  • 7
    • 0031092272 scopus 로고    scopus 로고
    • The human gene mutation database
    • Krawczak M, Cooper DN. The Human Gene Mutation Database. Trends Genet. 1997;13:121-122.
    • (1997) Trends Genet , vol.13 , pp. 121-122
    • Krawczak, M.1    Cooper, D.N.2
  • 8
    • 0030479536 scopus 로고    scopus 로고
    • The origin of interspersed repeats in the human genome
    • Smit AF. The origin of interspersed repeats in the human genome. Curr Opin Genet Dev. 1996;6: 743-748.
    • (1996) Curr Opin Genet Dev , vol.6 , pp. 743-748
    • Smit, A.F.1
  • 10
    • 0036250811 scopus 로고    scopus 로고
    • Alu repeats and human genomic diversity
    • Batzer MA, Deininger PL. Alu repeats and human genomic diversity. Nat Rev Genet. 2002;3:370-379.
    • (2002) Nat Rev Genet , vol.3 , pp. 370-379
    • Batzer, M.A.1    Deininger, P.L.2
  • 11
    • 0034677493 scopus 로고    scopus 로고
    • Conversion of diploidy to haploidy
    • Van H, Papadopoulos N, Marra G, et al. Conversion of diploidy to haploidy. Nature. 2000;403: 723-724.
    • (2000) Nature , vol.403 , pp. 723-724
    • Van, H.1    Papadopoulos, N.2    Marra, G.3
  • 12
    • 0037822164 scopus 로고    scopus 로고
    • Conversion technology and its role in genetic testing of inherited disease
    • Papadopoulos N. Conversion technology and its role in genetic testing of inherited disease. Expert Rev Mol Diagn. 2003;3:497-506.
    • (2003) Expert Rev Mol Diagn , vol.3 , pp. 497-506
    • Papadopoulos, N.1
  • 13
    • 0032958492 scopus 로고    scopus 로고
    • Identification of a novel mutation in a non-Jewish factor XI deficient kindred
    • Alhaq A, Mitchell M, Sethi M, et al. Identification of a novel mutation in a non-Jewish factor XI deficient kindred. Br J Haematol. 1999;104:44-49.
    • (1999) Br J Haematol , vol.104 , pp. 44-49
    • Alhaq, A.1    Mitchell, M.2    Sethi, M.3
  • 14
    • 0033402896 scopus 로고    scopus 로고
    • Heterozygous factor XI deficiency associated with three novel mutations
    • Mitchell M, Cutler J, Thompson S, et al. Heterozygous factor XI deficiency associated with three novel mutations. Br J Haematol. 1999;107:763-765.
    • (1999) Br J Haematol , vol.107 , pp. 763-765
    • Mitchell, M.1    Cutler, J.2    Thompson, S.3
  • 15
    • 0038015838 scopus 로고    scopus 로고
    • Eighteen unrelated patients with factor XI deficiency, four novel mutations and a 100% detection rate by denaturing high-performance liquid chromatography
    • Mitchell M, Harrington P, Cutler J, Rangarajan S, Savidge G, Alhaq A. Eighteen unrelated patients with factor XI deficiency, four novel mutations and a 100% detection rate by denaturing high-performance liquid chromatography. Br J Haematol. 2003;121:500-502.
    • (2003) Br J Haematol , vol.121 , pp. 500-502
    • Mitchell, M.1    Harrington, P.2    Cutler, J.3    Rangarajan, S.4    Savidge, G.5    Alhaq, A.6
  • 16
    • 4944240512 scopus 로고    scopus 로고
    • Eleven novel mutations in non-Jewish factor XI deficient kindreds detected by SSCP with heteroduplex analysis followed by sequencing
    • Bolton-Maggs P, Butler R, Mountford R, Gailiani D. Eleven novel mutations in non-Jewish factor XI deficient kindreds detected by SSCP with heteroduplex analysis followed by sequencing [abstract]. J Thromb Haemost. 2003;1 (suppl 1):P1687.
    • (2003) J Thromb Haemost , vol.1 , Issue.SUPPL. 1
    • Bolton-Maggs, P.1    Butler, R.2    Mountford, R.3    Gailiani, D.4
  • 17
    • 3042715266 scopus 로고    scopus 로고
    • Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain
    • Kravtsov DV, Wu W, Meijers JCM, 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.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.