-
1
-
-
0027520025
-
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
-
Lakich D, Kazazian HH, Jr, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nature Genet 1993; 5: 236-41.
-
(1993)
Nature Genet.
, vol.5
, pp. 236-241
-
-
Lakich, D.1
Kazazian Jr., H.H.2
Antonarakis, S.E.3
Gitschier, J.4
-
2
-
-
0027376685
-
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
-
3
-
-
0036096037
-
Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe haemophilia A
-
Bagnall D, 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.
-
(2002)
Blood
, vol.99
, pp. 168-174
-
-
Bagnall, D.1
Waseem, N.2
Green, P.M.3
Giannelli, F.4
-
4
-
-
0036839068
-
Intron factor VIII gene inversion in a population of Italian hemophilia A patients
-
Riccardi F, Tagliaferri A, Manotti C, Pattacini C, Neri TM. Intron factor VIII gene inversion in a population of Italian hemophilia A patients. Blood 2002; 100: 3432.
-
(2002)
Blood
, vol.100
, pp. 3432
-
-
Riccardi, F.1
Tagliaferri, A.2
Manotti, C.3
Pattacini, C.4
Neri, T.M.5
-
5
-
-
0037309487
-
Inversion of intron 1 of the factor VIII gene for direct molecular diagnosis of hemophilia A
-
Tizzano EF, Cornet M, Baiget M. Inversion of intron 1 of the factor VIII gene for direct molecular diagnosis of hemophilia A. Haematologica 2003; 88: 118-20.
-
(2003)
Haematologica
, vol.88
, pp. 118-120
-
-
Tizzano, E.F.1
Cornet, M.2
Baiget, M.3
-
6
-
-
0037711395
-
Frequency of factor VIII 1 inversion in a cohort of severe hemophilia A Italian patients
-
Acquila M, Pasino M, Lanza T, Bottini F, Boeri E, Bicocchi MP. Frequency of factor VIII 1 inversion in a cohort of severe hemophilia A Italian patients. Haematologica 2003; 88: ELT17.
-
(2003)
Haematologica
, vol.88
-
-
Acquila, M.1
Pasino, M.2
Lanza, T.3
Bottini, F.4
Boeri, E.5
Bicocchi, M.P.6
-
7
-
-
1542284834
-
Significant prevalence of the intron 1 factor VIII gene inversion among patients with severe hemophilia A in the Czech Republic
-
Habart D, Kalabova D, Hrachovinova I, Vorlova Z. Significant prevalence of the intron 1 factor VIII gene inversion among patients with severe hemophilia A in the Czech Republic. J Thromb Haemost 2003; 1: 1323-4.
-
(2003)
J. Thromb. Haemost.
, vol.1
, pp. 1323-1324
-
-
Habart, D.1
Kalabova, D.2
Hrachovinova, I.3
Vorlova, Z.4
-
8
-
-
0032529667
-
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
-
-
0029095603
-
Factor VIII gene inversions in severe hemophilia A: Results of an International Consortium Study
-
Antonarakis SE, Rossiter JP, Young M et al. Factor VIII gene inversions in severe hemophilia A: results of an International Consortium Study. Blood 1995; 86: 2206-12.
-
(1995)
Blood
, vol.86
, pp. 2206-2212
-
-
Antonarakis, S.E.1
Rossiter, J.P.2
Young, M.3
-
10
-
-
0027433113
-
Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
-
Ganguly A, Rock MJ, Prockop DJ. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 1993; 90: 10325-9.
-
(1993)
Proc. Natl. Acad. Sci. USA
, vol.90
, pp. 10325-10329
-
-
Ganguly, A.1
Rock, M.J.2
Prockop, D.J.3
-
11
-
-
0029617930
-
Mutation type determines risk of inhibitor formation
-
Schwaab R, Brakman H, Meyer C et al. Mutation type determines risk of inhibitor formation. Thromb Haemost 1995; 74: 1402-6.
-
(1995)
Thromb. Haemost.
, vol.74
, pp. 1402-1406
-
-
Schwaab, R.1
Brakman, H.2
Meyer, C.3
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