-
1
-
-
0029095603
-
Factor VIII gene inversions in severe hemophilia A: Results of an international consortium study
-
Antonarakis SE, Rossiter JP, Young M, Horst J, de Moerloose P, Sommer SS, Ketterling RP, Kazazian HH Jr, Nègrier C, Vinciguerra C, Gitschier J, Goossens M, Girodon E, Ghanem N, Plassa F, Lavergne JM, Viduad 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
Horst, J.4
De Moerloose, P.5
Sommer, S.S.6
Ketterling, R.P.7
Kazazian Jr., H.H.8
Nègrier, C.9
Vinciguerra, C.10
Gitschier, J.11
Goossens, M.12
Girodon, E.13
Ghanem, N.14
Plassa, F.15
Lavergne, J.M.16
Viduad, M.17
-
2
-
-
0032529667
-
Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A
-
Liu Q, Nozari G, Sommer SS. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot 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
-
3
-
-
0032431385
-
Subcycling-PCR for multiplex long-distance amplification of regions with high and low GC content: Application to the inversion hotspot in the factor VIII gene
-
Liu Q, Sommer SS. Subcycling-PCR for multiplex long-distance amplification of regions with high and low GC content: application to the inversion hotspot in the factor VIII gene. Biotechniques 1998; 25: 1022-8.
-
(1998)
Biotechniques
, vol.25
, pp. 1022-1028
-
-
Liu, Q.1
Sommer, S.S.2
-
4
-
-
0035067711
-
Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: Identification of 14 novel mutations
-
Vidal F, Farssac E, Altisent C, Puig L. Gallardo D. Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations. Thromb Haemost 2001; 85: 580-3.
-
(2001)
Thromb Haemost
, vol.85
, pp. 580-583
-
-
Vidal, F.1
Farssac, E.2
Altisent, C.3
Puig, L.4
Gallardo, D.5
-
5
-
-
0037250561
-
Unleashing the long-distance PCR for detection of the intron 22 inversion of the factor VIII gene in severe haemophilia A
-
Bowen DJ, Keeney S. Unleashing the long-distance PCR for detection of the intron 22 inversion of the factor VIII gene in severe haemophilia A. Thromb Haemost 2003; 89: 201-2.
-
(2003)
Thromb Haemost
, vol.89
, pp. 201-202
-
-
Bowen, D.J.1
Keeney, S.2
-
6
-
-
0142186725
-
Long distance PCR in detection of inversion mutations of F8C gene in hemophilia A patients
-
Polakova H, Zmetakova I, Kadasi L. Long distance PCR in detection of inversion mutations of F8C gene in hemophilia A patients. Gen Physiol Biophys 2003; 22: 243-53.
-
(2003)
Gen Physiol Biophys
, vol.22
, pp. 243-253
-
-
Polakova, H.1
Zmetakova, I.2
Kadasi, L.3
-
7
-
-
0032848102
-
Long-distance PCR-based screening for large rearrangements of the LDL receptor gene in Korean patients with familial hypercholesterolemia
-
Kim SH, Bae JH, Chae JJ, Kim UK, Choe S-J, Namkoong Y, Kim H-S, Park Y-B, Lee CC. Long-distance PCR-based screening for large rearrangements of the LDL receptor gene in Korean patients with familial hypercholesterolemia. Clin Chem 1999; 45: 1424-30.
-
(1999)
Clin Chem
, vol.45
, pp. 1424-1430
-
-
Kim, S.H.1
Bae, J.H.2
Chae, J.J.3
Kim, U.K.4
Choe, S.-J.5
Namkoong, Y.6
Kim, H.-S.7
Park, Y.-B.8
Lee, C.C.9
-
8
-
-
0029785234
-
Application of long-distance polymerase chain reaction to detection of junctional sequences created by chromosomal translocation in mature B-cell neoplasms
-
Akasaka T, Muramatsu M, Ohno H, Miura I, Tatsumi E, Fukuhara S, Mori T, Okuma M. Application of long-distance polymerase chain reaction to detection of junctional sequences created by chromosomal translocation in mature B-cell neoplasms. Blood 1996; 88: 985-94.
-
(1996)
Blood
, vol.88
, pp. 985-994
-
-
Akasaka, T.1
Muramatsu, M.2
Ohno, H.3
Miura, I.4
Tatsumi, E.5
Fukuhara, S.6
Mori, T.7
Okuma, M.8
-
9
-
-
0031963145
-
Polymerase chain reaction amplification of long DNA targets: Application to analysis of chromosomal translocations in human B-cell tumors
-
Akasaka T, Akasaka H, Ohno H. Polymerase chain reaction amplification of long DNA targets: application to analysis of chromosomal translocations in human B-cell tumors (review). Int J Oncol 1998; 12: 113-21.
-
(1998)
Int J Oncol
, vol.12
, pp. 113-121
-
-
Akasaka, T.1
Akasaka, H.2
Ohno, H.3
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