-
1
-
-
19544378856
-
Haemophilia A: From mutation analysis to new therapies
-
Graw J, Brackmann H, Oldenburg J, Schneppenheim R, Spannag M, Schwaab R. Haemophilia A: From mutation analysis to new therapies. Nat Rev Genet 2005; 6: 488-501.
-
(2005)
Nat Rev Genet
, vol.6
, pp. 488-501
-
-
Graw, J.1
Brackmann, H.2
Oldenburg, J.3
Schneppenheim, R.4
Spannag, M.5
Schwaab, R.6
-
2
-
-
0036096037
-
Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A
-
Bagnall RD, Waseem N, Green PM, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 2002; 99: 168-74.
-
(2002)
Blood
, vol.99
, pp. 168-174
-
-
Bagnall, R.D.1
Waseem, N.2
Green, P.M.3
Giannelli, F.4
-
3
-
-
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
-
5
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res 1988; 16: 1215.
-
(1988)
Nucleic Acid Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
6
-
-
0032431385
-
Subcycling-PCR for multiplex long distance amplification of regions with high and low GC content: Application to the inversion hotspot in the FVIII 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 FVIII gene. Biotechniques 1998; 25: 1022-8.
-
(1998)
Biotechniques
, vol.25
, pp. 1022-1028
-
-
Liu, Q.1
Sommer, S.S.2
-
7
-
-
24644437294
-
Identification of factor VIII gene mutations in 101 patients with haemophilia A: Mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions
-
Jayandharan G, Shaji RV, Baidya S, Nair SC, Chandy M, Srivastava A. Identification of factor VIII gene mutations in 101 patients with haemophilia A: Mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions. Haemophilia 2005; 11: 481-91.
-
(2005)
Haemophilia
, vol.11
, pp. 481-491
-
-
Jayandharan, G.1
Shaji, R.V.2
Baidya, S.3
Nair, S.C.4
Chandy, M.5
Srivastava, A.6
-
8
-
-
0035672249
-
Some factor VIII exon 14 frameshift mutations cause moderately severe haemophilia A
-
Nakaya S, Liu ML, Thompson AR. Some factor VIII exon 14 frameshift mutations cause moderately severe haemophilia A. Br J Haematol 2001; 115: 977-82.
-
(2001)
Br J Haematol
, vol.115
, pp. 977-982
-
-
Nakaya, S.1
Liu, M.L.2
Thompson, A.R.3
-
9
-
-
16344362284
-
Mutation analysis in 51 patients with haemophilia A: Report of 10 novel mutations and correlations between genotype and clinical phenotype
-
Hill M, Deam S, Gordon B, Dolan G. Mutation analysis in 51 patients with haemophilia A: Report of 10 novel mutations and correlations between genotype and clinical phenotype. Haemophilia 2005; 11: 133-41.
-
(2005)
Haemophilia
, vol.11
, pp. 133-141
-
-
Hill, M.1
Deam, S.2
Gordon, B.3
Dolan, G.4
-
10
-
-
0027744053
-
Characterization of genetic defects of hemophilia A in patients of Chinese origin
-
Lin SW, Lin SR, Shen MC. Characterization of genetic defects of hemophilia A in patients of Chinese origin. Genomics 1993; 18: 496-504.
-
(1993)
Genomics
, vol.18
, pp. 496-504
-
-
Lin, S.W.1
Lin, S.R.2
Shen, M.C.3
-
11
-
-
0031731016
-
Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene
-
Laprise SL, Mak EK, Killoran KA, Layman LC, Gray MR. Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene. Hum Mut 1998; 12: 393-402.
-
(1998)
Hum Mut
, vol.12
, pp. 393-402
-
-
Laprise, S.L.1
Mak, E.K.2
Killoran, K.A.3
Layman, L.C.4
Gray, M.R.5
-
12
-
-
0031017506
-
Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene
-
Young M, Inaba H, Hoyer LW, Iguchi M, Kazazian HH JR, Anatonarakis SE. Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene. Am J Hum Genet 1997; 60: 565-73.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 565-573
-
-
Young, M.1
Inaba, H.2
Hoyer, L.W.3
Iguchi, M.4
Kazazian, H.H.5
Anatonarakis, S.E.6
-
13
-
-
20344405733
-
The spectrum of mutations in Southern Spanish patients with hemophilia A and identification of 28 novel mutations
-
Fernandez-Lopez O, Garcia-Lozano JR, Nunez-Vazquez R, Perez-Garrido R, Nunez-Roldan A. The spectrum of mutations in Southern Spanish patients with hemophilia A and identification of 28 novel mutations. Haematologica 2005; 90: 707-10.
-
(2005)
Haematologica
, vol.90
, pp. 707-710
-
-
Fernandez-Lopez, O.1
Garcia-Lozano, J.R.2
Nunez-Vazquez, R.3
Perez-Garrido, R.4
Nunez-Roldan, A.5
-
14
-
-
0022967463
-
Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots
-
Youssoufian H, Kazazian HH, Phillips DG et al. Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots. Nature 1986; 324: 380-2.
-
(1986)
Nature
, vol.324
, pp. 380-382
-
-
Youssoufian, H.1
Kazazian, H.H.2
Phillips, D.G.3
-
15
-
-
34248535395
-
Sequencing of the factor 8 (F8) coding regions in 10 Turkish hemophilia A patients reveals three novel pathological mutations, and one rediagnosis of von Willebrand's disease type 2N
-
Berber E, Fidanci ID, Un C et al. Sequencing of the factor 8 (F8) coding regions in 10 Turkish hemophilia A patients reveals three novel pathological mutations, and one rediagnosis of von Willebrand's disease type 2N. Haemophilia 2006; 12: 398-400.
-
(2006)
Haemophilia
, vol.12
, pp. 398-400
-
-
Berber, E.1
Fidanci, I.D.2
Un, C.3
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