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Volumn 94, Issue 4, 2005, Pages 883-886

Molecular characterization of factor IX gene mutations in 53 patients with haemophilia B in India [1]

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 9;

EID: 27144448063     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter
Times cited : (17)

References (16)
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  • 2
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  • 4
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    • Polymerase chain reaction amplification applied to the determination of b-like globin cluster haplotypes
    • Sutton M, Bouhassira EE, Nagel RL. Polymerase chain reaction amplification applied to the determination of b-like globin cluster haplotypes. Am J Hematol 1989; 32: 66-9.
    • (1989) Am. J. Hematol. , vol.32 , pp. 66-69
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  • 5
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    • The factor IX gene as a model for analysis of human germline mutations: An update
    • Sommer SS, Ketterling RP. The factor IX gene as a model for analysis of human germline mutations: an update. Hum Mol Gen 1996; 5: 1505-14.
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    • Sommer, S.S.1    Ketterling, R.P.2
  • 6
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    • Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis
    • Tartary M, Vidaud D, Piao Y et al. Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis. Br J Haematol 1993; 84: 662-9.
    • (1993) Br. J. Haematol. , vol.84 , pp. 662-669
    • Tartary, M.1    Vidaud, D.2    Piao, Y.3
  • 7
    • 0032911256 scopus 로고    scopus 로고
    • Identification of twenty-one new mutations in the factor IX gene by SSCP analysis
    • Montejo JM, Magallon M, Tizzano E et al. Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. Hum Mutat 1999; 13: 160-5.
    • (1999) Hum. Mutat. , vol.13 , pp. 160-165
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  • 8
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    • Evaluation of denaturing high-performance liquid chromatography (DHPLC) in the screening of mutations in haemophilia B patients
    • Herbert O, Trossaert M, Boisseau P et al. Evaluation of denaturing high-performance liquid chromatography (DHPLC) in the screening of mutations in haemophilia B patients. J Thromb Haemost 2004; 2: 2267-9.
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  • 9
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    • A database of point mutations and short additions and deletions in the factor IX gene
    • Haemophilia B Mutation database: (Version 13, 2004): http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html/. A database of point mutations and short additions and deletions in the factor IX gene.
    • Haemophilia B Mutation Database: (Version 13, 2004)
  • 10
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    • Jayandharan G, Shaji RV, Nair SC et al. Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val). J Thromb Haemost 2005; 3: 808-11.
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  • 11
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  • 12
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    • Larson PJ, Stanfield-Oakley SA, VanDusen WJ et al. Structural integrity of the gamma-carboxyglutamic acid domain of human blood coagulation factor IXa is required for its binding to cofactor VIIIa. J Biol Chem 1996; 271: 3869-76.
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  • 13
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    • The factor IX gamma-carboxyglutamic acid (Gla) domain is involved in interactions between factor IX and factor XIa
    • Aktimur A, Gabriel MA, Gailani D et al. The factor IX gamma-carboxyglutamic acid (Gla) domain is involved in interactions between factor IX and factor XIa. J Biol Chem 2003; 278: 7981-7.
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  • 14
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.