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Volumn 18, Issue 3, 2012, Pages 452-456

A Modified I-PCR to detect the factor VIII Inv22 for genetic diagnosis and prenatal diagnosis in haemophilia A

Author keywords

Factor VIII; Genetic diagnosis; Intron 22; Inversion; Inversion polymerase chain reaction; Prenatal diagnosis

Indexed keywords

BLOOD CLOTTING FACTOR 8; DNA;

EID: 84860325486     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2011.02670.x     Document Type: Article
Times cited : (9)

References (9)
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    • De Brasi, C.D.1    Bowen, D.J.2
  • 3
    • 0027520025 scopus 로고
    • Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
    • Lakich D, Kazazian HH Jr, Antomarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 1993; 5: 236-41.
    • (1993) Nat Genet , vol.5 , pp. 236-241
    • Lakich, D.1    Kazazian Jr., H.H.2    Antomarakis, S.E.3    Gitschier, J.4
  • 4
    • 0027376685 scopus 로고
    • Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA 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 DNA inversions. Hum Mol Genet 1993; 2: 1773-8.
    • (1993) Hum Mol Genet , vol.2 , pp. 1773-1778
    • Naylor, J.1    Brinke, A.2    Hassock, S.3    Green, P.M.4    Giannelli, F.5
  • 5
    • 23344454962 scopus 로고    scopus 로고
    • Genotyping the haemophilia inversion hotspot by use of inverse PCR
    • Rossetti LC, Radic CP, Larripa IB, Brasi CDD. Genotyping the haemophilia inversion hotspot by use of inverse PCR. Clin Chem 2005; 51: 1154-8.
    • (2005) Clin Chem , vol.51 , pp. 1154-1158
    • Rossetti, L.C.1    Radic, C.P.2    Larripa, I.B.3    Brasi, C.D.D.4
  • 6
    • 0032529667 scopus 로고    scopus 로고
    • Single-tube polymerase chain reaction for rapid diagnosis of the inversion hot spot of mutation in hemophilia A
    • Liu Q, Nozari G, Sommer SS. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hot spot of mutation in hemophilia A. Blood 1998; 92: 1458-9.
    • (1998) Blood , vol.92 , pp. 1458-1459
    • Liu, Q.1    Nozari, G.2    Sommer, S.S.3
  • 7
    • 0035077234 scopus 로고    scopus 로고
    • Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis
    • Rosendaal F, Aledort LM, Lusher JM, Rothschild C, Ingerslev J. Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 2001; 85: 560.
    • (2001) Thromb Haemost , vol.85 , pp. 560
    • Rosendaal, F.1    Aledort, L.M.2    Lusher, J.M.3    Rothschild, C.4    Ingerslev, J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.