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Volumn 83, Issue 5, 2004, Pages 304-306

Two novel factor X gene mutations in a Chinese family with factor X deficiency

Author keywords

Chinese; Factor X gene mutation

Indexed keywords

BLOOD CLOTTING FACTOR 10; CYTOSINE; GUANINE; NUCLEOTIDE; PHENYLALANINE; SERINE; THYMINE;

EID: 2342594502     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-003-0803-1     Document Type: Article
Times cited : (7)

References (14)
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  • 3
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    • Identification of the phospholipid binding site in the vitamin K-dependent blood coagulation protein factor IX
    • Freedman SJ, Blostein MD, Baleja JD, Jacobs M, Furie BC, Furie B (1996) Identification of the phospholipid binding site in the vitamin K-dependent blood coagulation protein factor IX. J Biol Chem 271:16227-16236
    • (1996) J. Biol. Chem. , vol.271 , pp. 16227-16236
    • Freedman, S.J.1    Blostein, M.D.2    Baleja, J.D.3    Jacobs, M.4    Furie, B.C.5    Furie, B.6
  • 4
    • 2342561446 scopus 로고    scopus 로고
    • mutation database website, King's College London
    • Haemophilia B mutation database website, King's College London: http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html
    • Haemophilia, B.1
  • 5
    • 0026020326 scopus 로고
    • Molecular defect in coagulation factor XFriuli results from a substitution of serine for proline at position 343
    • James HL, Girolami A, Fair DS (1991) Molecular defect in coagulation factor XFriuli results from a substitution of serine for proline at position 343. Blood 77:317-323
    • (1991) Blood , vol.77 , pp. 317-323
    • James, H.L.1    Girolami, A.2    Fair, D.S.3
  • 6
    • 0023667781 scopus 로고
    • Recognition site directing vitamin K-dependent gamma-carboxylation resides on the propeptide of factor IX
    • Jorgensen MJ, Cantor AB, Furie BC, Brown CL, Shoemaker CB, Furie B (1987) Recognition site directing vitamin K-dependent gamma-carboxylation resides on the propeptide of factor IX. Cell 48:185-191
    • (1987) Cell , vol.48 , pp. 185-191
    • Jorgensen, M.J.1    Cantor, A.B.2    Furie, B.C.3    Brown, C.L.4    Shoemaker, C.B.5    Furie, B.6
  • 7
    • 0343941338 scopus 로고
    • Isolation and characterization of a cDNA coding for human factor IX
    • Kurachi K, Davie EW (1982) Isolation and characterization of a cDNA coding for human factor IX. Proc Natl Acad Sci U S A 79:6461-6464
    • (1982) Proc. Natl. Acad. Sci. U. S. A. , vol.79 , pp. 6461-6464
    • Kurachi, K.1    Davie, E.W.2
  • 8
    • 0022871419 scopus 로고
    • Gene for human factor X: A blood coagulation factor whose gene organization is essentially identical with that of factor IX and protein C
    • Leytus SP, Foster DC, Kurachi K, Davie EW (1986) Gene for human factor X: a blood coagulation factor whose gene organization is essentially identical with that of factor IX and protein C. Biochemistry 25:5098-5102
    • (1986) Biochemistry , vol.25 , pp. 5098-5102
    • Leytus, S.P.1    Foster, D.C.2    Kurachi, K.3    Davie, E.W.4
  • 11
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    • The human gene mutation database Cardiff
    • factor X
    • The human gene mutation database Cardiff, factor X: http://archive.uwcm.ac.uk/uwcm/mg/search/119890.html
  • 12
    • 0035891554 scopus 로고    scopus 로고
    • A new factor X defect (factor X Padua 3): A compound heterozygous between true deficiency (Gly(380)→Arg) and an abnormality (Ser(334)→Pro)
    • Vianello F, Lombardi AM, Boldrin C, Luni S, Girolami A (2001) A new factor X defect (factor X Padua 3): a compound heterozygous between true deficiency (Gly(380)→Arg) and an abnormality (Ser(334)→ Pro). Thromb Res 104:257-264
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  • 13
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  • 14
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.