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Volumn 51, Issue 7, 2005, Pages 1154-1158

Genotyping the hemophilia inversion hotspot by use of inverse PCR

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; DNA; REPETITIVE DNA;

EID: 23344454962     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2004.046490     Document Type: Article
Times cited : (93)

References (14)
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  • 2
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    • Inversions disrupting the factor VIII gene are common cause of severe haemophilia A
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    • Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large inversions
    • Naylor J, Brinke A, Hassock S, Green PM, Giannelli F. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large inversions. Hum Mol Genet 1993; 2:1773-8.
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    • Naylor, J.1    Brinke, A.2    Hassock, S.3    Green, P.M.4    Giannelli, F.5
  • 4
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    • FVIII gene inversions in severe haemophilia A: Results of an international consortium study
    • Antonarakis SE, Rossiter JP, Young M, Horst J, de Moerloose P, Sommer SS, et al. FVIII gene inversions in severe haemophilia A: results of an international consortium study. Blood 1995;86: 2206-12.
    • (1995) Blood , vol.86 , pp. 2206-2212
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    • Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions
    • Naylor JA. Buck D, Green PM, Williamson H, Bentley D, Giannelli F. Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions. Hum Mol Genet 1995;4: 1217-24.
    • (1995) Hum Mol Genet , vol.4 , pp. 1217-1224
    • Naylor, J.A.1    Buck, D.2    Green, P.M.3    Williamson, H.4    Bentley, D.5    Giannelli, F.6
  • 8
    • 0032529667 scopus 로고    scopus 로고
    • Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in haemophilia A
    • Liu Q, Nozari G, Sommer SS. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in haemophilia A. Blood 1998;92:1458-9.
    • (1998) Blood , vol.92 , pp. 1458-1459
    • Liu, Q.1    Nozari, G.2    Sommer, S.S.3
  • 9
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    • De novo factor VIII gene intron inversion in a female carrier presents as a somatic mosaicism
    • Oldenburg J, Rost S, EI-Maari O, Leuer M, Olek K, Muller CR, et al. De novo factor VIII gene intron inversion in a female carrier presents as a somatic mosaicism. Blood 2000;96:2905-6.
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    • Oldenburg, J.1    Rost, S.2    Ei-Maari, O.3    Leuer, M.4    Olek, K.5    Muller, C.R.6
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    • A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies
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    • Subcycling-PCR for multiplex long-distance amplification to the inversion hotspot in the factor VIII gene
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.