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Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
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Antonarakis SE, Rossiter JP, Young M, Horst J, de Moerloose P, Sommer SS, Ketterling RP, Kazazian HH Jr, Negrier C, Vinciguerra C, Gitschier J, Goossens M, Girodon E, Ghanem N, Plassa F, Lavergne JM, Vidaud M, Costa JM, Laurian Y, Lin S-W, Lin S-R, Shen M-C, Lillicrap D, Taylor SAM, Windsor S, Valleix SV, Nafa K, Sultan Y, Delpech M, Vnencak-Jones CL, Phillips JA III, Ljung RCR, Koumbarelis E, Gialeraki A, Mandalaki T, Jenkins PV, Collins PW, Pasi KJ, Goodeve A, Peake I, Preston FE, Schwartz M, Scheibel E, Ingerslev J, Cooper DN, Millar DS, Kakkar VV, Giannelli F, Naylor JA, Tizzano EF, Baiget M, Domenech M, Altisent C, Tusell J, Beneyto M, Lorenzo JI, Gaucher C, Mazurier C, Peerlinck K, Matthijs G, Cassiman JJ, Vermylen J, Mori PG, Acquila M, Caprino D, Inaba H. Factor VIII gene inversions in severe haemophilia A: results of an international consortium study. Blood 1995; 86: 2206-12.
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Antonarakis, S.E.1
Rossiter, J.P.2
Young, M.3
Horst, J.4
de Moerloose, P.5
Sommer, S.S.6
Ketterling, R.P.7
Kazazian Jr., H.H.8
Negrier, C.9
Vinciguerra, C.10
Gitschier, J.11
Goossens, M.12
Girodon, E.13
Ghanem, N.14
Plassa, F.15
Lavergne, J.M.16
Vidaud, M.17
Costa, J.M.18
Laurian, Y.19
Lin, S.-W.20
Lin, S.-R.21
Shen, M.-C.22
Lillicrap, D.23
Taylor, S.A.M.24
Windsor, S.25
Valleix, S.V.26
Nafa, K.27
Sultan, Y.28
Delpech, M.29
Vnencak-Jones, C.L.30
Phillips III, J.A.31
Ljung, R.C.R.32
Koumbarelis, E.33
Gialeraki, A.34
Mandalaki, T.35
Jenkins, P.V.36
Collins, P.W.37
Pasi, K.J.38
Goodeve, A.39
Peake, I.40
Preston, F.E.41
Schwartz, M.42
Scheibel, E.43
Ingerslev, J.44
Cooper, D.N.45
Millar, D.S.46
Kakkar, V.V.47
Giannelli, F.48
Naylor, J.A.49
Tizzano, E.F.50
Baiget, M.51
Domenech, M.52
Altisent, C.53
Tusell, J.54
Beneyto, M.55
Lorenzo, J.I.56
Gaucher, C.57
Mazurier, C.58
Peerlinck, K.59
Matthijs, G.60
Cassiman, J.J.61
Vermylen, J.62
Mori, P.G.63
Acquila, M.64
Caprino, D.65
Inaba, H.66
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3
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0029830215
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Two chimaeric transcription units result from an inversion breaking intron 1 of the factor VIII gene and a region reportedly affected by reciprocal translocations in T-cell leukaemia
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Brinke A, Tagliavacca L, Naylor J, Green P, Giangrande P, Giannelli F. Two chimaeric transcription units result from an inversion breaking intron 1 of the factor VIII gene and a region reportedly affected by reciprocal translocations in T-cell leukaemia. Hum Mol Genet 1996; 5: 1945-51.
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Brinke, A.1
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Naylor, J.3
Green, P.4
Giangrande, P.5
Giannelli, F.6
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4
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0036096037
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Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe haemophilia A
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Bagnall RD, Waseem N, Green PM, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe haemophilia A. Blood 2002; 99: 168-74.
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Bagnall, R.D.1
Waseem, N.2
Green, P.M.3
Giannelli, F.4
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5
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13244298825
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Identification of intron 1 and intron 22 inversion mutation in the factor VIII gene of 94 Iranian families with haemophilia A
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(Abstract)
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Lari GR, Arjang Z, Pejhan N, Baghaipoor MR, Lavergne JM, Enayat MS, Ala F. Identification of intron 1 and intron 22 inversion mutation in the factor VIII gene of 94 Iranian families with haemophilia A. J Thromb Haemost 2003; (Suppl.): PO656 (Abstract).
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Lari, G.R.1
Arjang, Z.2
Pejhan, N.3
Baghaipoor, M.R.4
Lavergne, J.M.5
Enayat, M.S.6
Ala, F.7
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6
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13244273223
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Intron 1 factor VIII gene inversion in patients with severe hemophilia A
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(Abstract)
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Salviato R, Belvini D, Radossi P, De Biasi E, Risato R, Davoli PG, Tagariello G. Intron 1 factor VIII gene inversion in patients with severe hemophilia A. J Thromb Haemost 2003; (Suppl.): PO638 (Abstract).
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Salviato, R.1
Belvini, D.2
Radossi, P.3
De Biasi, E.4
Risato, R.5
Davoli, P.G.6
Tagariello, G.7
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7
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1542284834
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Significant prevalence of the intron 1 factor VIII gene inversion among patients with severe haemophilia A in the Czech Republic
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(Abstract)
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Habart D, Hrachovinova I, Kalabova D, Vorlova Z. Significant prevalence of the intron 1 factor VIII gene inversion among patients with severe haemophilia A in the Czech Republic. J Thromb Haemost 2003; (Suppl.): PO637 (Abstract).
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Habart, D.1
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Kalabova, D.3
Vorlova, Z.4
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