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Volumn 1, Issue 9, 2003, Pages 2051-2054

Identification of factor IX gene defects using a multiplex PCR and CSGE strategy-a first report

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 9;

EID: 2442616249     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1046/j.1538-7836.2003.00347.x     Document Type: Letter
Times cited : (20)

References (13)
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  • 3
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    • A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis
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    • Precise carrier and prenatal diagnosis in families with haemophilia A Use of conformation sensitive gel electrophoresis for rapid mutation screening and polymorphism analysis
    • Williams IJ, Abuzenadah A, Winship PR, Preston FE, Dolan G, Wright J, Peake IR, Goodeve AC. Precise carrier and prenatal diagnosis in families with haemophilia A. Use of conformation sensitive gel electrophoresis for rapid mutation screening and polymorphism analysis. Thromb Raemost 1998; 79: 723-6.
    • (1998) Thromb Raemost , vol.79 , pp. 723-726
    • Williams, I.J.1    Abuzenadah, A.2    Winship, P.R.3    Preston, F.E.4    Dolan, G.5    Wright, J.6    Peake, I.R.7    Goodeve, A.C.8
  • 6
    • 0025948892 scopus 로고
    • Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as 'spacer' elements
    • Bottema CDK, Ketterling RP, Li S, Yoon HS, Phillips JA III, Sommer SS. Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as 'spacer' elements. Am J Hum Genet 1991; 49: 820-38.
    • (1991) Am J Hum Genet , vol.49 , pp. 820-838
    • Bottema, C.D.K.1    Ketterling, R.P.2    Li, S.3    Yoon, H.S.4    Phillips III, J.A.5    Sommer, S.S.6
  • 10
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    • Kòrkkò J, Kaitila I, Lònnqvist L, Peltonen L, Ala-Kokko L. Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. JMed Genet 2002; 39: 34-41.
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    • Kòrkkò, J.1    Kaitila, I.2    Lònnqvist, L.3    Peltonen, L.4    Ala-Kokko, L.5
  • 11
    • 0031978284 scopus 로고    scopus 로고
    • Comparison of conformation-sensitive gel electrophoresis and single-strand conformation polymorphism analysis for detection of mutations in the BRACI gene using optimized conformation analysis protocols
    • Markoff A, Sormbroen H, Bogdanova N, Preisler-Adams S, Ganev V, Dworniczak B, Horst J. Comparison of conformation-sensitive gel electrophoresis and single-strand conformation polymorphism analysis for detection of mutations in the BRACI gene using optimized conformation analysis protocols. Eur J Hum Genet 1998; 6: 145-50.
    • (1998) Eur J Hum Genet , vol.6 , pp. 145-150
    • Markoff, A.1    Sormbroen, H.2    Bogdanova, N.3    Preisler-Adams, S.4    Ganev, V.5    Dworniczak, B.6    Horst, J.7
  • 12
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    • Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
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    • Beggs, A.H.1    Koenig, M.2    Boyce, F.M.3    Kunkel, L.M.4
  • 13
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    • Nucleotide sequence of the gene for human factor IX (antihemophilic factor B)
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.