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Volumn 29, Issue 12, 2009, Pages 1183-1185

Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples

Author keywords

DNA inversions; Hemophilia; IS PCR; Prenatal diagnosis

Indexed keywords

DNA;

EID: 72149087663     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2393     Document Type: Article
Times cited : (8)

References (9)
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    • DOI 10.1182/blood.V99.1.168
    • Bagnall RD, Waseem N, Green PM, Giannelli F. 2002. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe Hemophilia A. Blood 99: 168-174. (Pubitemid 34532979)
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    • Bagnall, R.D.1    Waseem, N.2    Green, P.M.3    Giannelli, F.4
  • 3
    • 0027520025 scopus 로고
    • Inversions disrupting the factor VIII gene are a common cause of severe haemophilia a
    • DOI 10.1038/ng1193-236
    • Lakich D, Kazazian HH, Antonarakis SE, Gitschier J. 1993. Inversions disrupting the factor VIII gene are common cause of severe Hemophilia A. Nature Genet 5: 236-241. (Pubitemid 23330385)
    • (1993) Nature Genetics , vol.5 , Issue.3 , pp. 236-241
    • Lakich, D.1    Kazazian Jr., H.H.2    Antonarakis, S.E.3    Gitschier, J.4
  • 4
    • 39749140223 scopus 로고    scopus 로고
    • Analysis of intron 1 factor VIII gene inversion for direct diagnosis in patients with severe haemophilia a in China
    • DOI 10.1002/pd.1926
    • Liang Y, Yan M, Xiao B, Liu J. 2008. Analysis of intron 1 factor VIII gene inversion for direct diagnosis in patients with severe haemophilia A in China. Prenat Diagn 28: 160-161. (Pubitemid 351311160)
    • (2008) Prenatal Diagnosis , vol.28 , Issue.2 , pp. 160-161
    • Liang, Y.1    Yan, M.2    Xiao, B.3    Liu, J.4
  • 5
    • 0032529667 scopus 로고    scopus 로고
    • Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia a [4]
    • Liu Q, Nozari G, Sommer SS. 1998. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot mutation in haemophilia A. Blood 92: 1458-1459. (Pubitemid 28369064)
    • (1998) Blood , vol.92 , Issue.4 , pp. 1458-1459
    • Liu, Q.1    Nozari, G.2    Sommer, S.S.3
  • 6
    • 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. 1993. Characteristic mRNA abnormality found in half the patients with severe Haemophilia A is due to large inversions. Hum Molec Genet 2: 1773-1778. (Pubitemid 23326598)
    • (1993) Human Molecular Genetics , vol.2 , Issue.11 , pp. 1773-1778
    • Naylor, J.1    Brinke, A.2    Hassock, S.3    Green, P.M.4    Giannelli, F.5
  • 7
    • 42149170507 scopus 로고    scopus 로고
    • Developing a new generation of tests for genotyping hemophilia causative rearrangements involving int22h and int1h hotspots in the factor VIII gene
    • Rossetti LC, Radic CP, Larripa IB, De Brasi CD. 2008. Developing a new generation of tests for genotyping hemophilia causative rearrangements involving int22h and int1h hotspots in the factor VIII gene. J Thromb Haemost 6: 830-836.
    • (2008) J Thromb Haemost , vol.6 , pp. 830-836
    • Rossetti, L.C.1    Radic, C.P.2    Larripa, I.B.3    De Brasi, C.D.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.