-
1
-
-
0025292828
-
Haemophilia B: Database of point mutations and short additions and deletions
-
Gianelli F, Green P, High KA, Lozier JN, Lillcrap DP, Ludwig M, Olek K, Rerstma PH, Goosens M, Yoshioka A, Sommer S, Brownlee GG (1999) Haemophilia B: Database of point mutations and short additions and deletions. Nucleic Acids Res 18:4053-4059
-
(1999)
Nucleic Acids Res
, vol.18
, pp. 4053-4059
-
-
Gianelli, F.1
Green, P.2
High, K.A.3
Lozier, J.N.4
Lillcrap, D.P.5
Ludwig, M.6
Olek, K.7
Rerstma, P.H.8
Goosens, M.9
Yoshioka, A.10
Sommer, S.11
Brownlee, G.G.12
-
2
-
-
0025360357
-
A past mutation of isoleucine 397 is now a common cause of moderate-mild hemophilia
-
Bottema CDK, Koeberl DD, Ketterling RP, Bowie EJW, Taylor SAM, Lillicrap D, Shapiro A, Gilchrist G, Sommer SS (1990) A past mutation of isoleucine 397 is now a common cause of moderate-mild hemophilia. Br J Haematol 75:212-216
-
(1990)
Br J Haematol
, vol.75
, pp. 212-216
-
-
Bottema, C.D.K.1
Koeberl, D.D.2
Ketterling, R.P.3
Bowie, E.J.W.4
Taylor, S.A.M.5
Lillicrap, D.6
Shapiro, A.7
Gilchrist, G.8
Sommer, S.S.9
-
3
-
-
0024581087
-
A moderate form of hemophilia B is caused by a novel mutation in the protease domain of factor IX-Vancouver
-
Geddes VA, Le Bonniec BF, Louie GV (1989) A moderate form of hemophilia B is caused by a novel mutation in the protease domain of factor IX-Vancouver. J Biol Chem 264:4689-4697
-
(1989)
J Biol Chem
, vol.264
, pp. 4689-4697
-
-
Geddes, V.A.1
Le Bonniec, B.F.2
Louie, G.V.3
-
5
-
-
0004136246
-
-
3rd edn. Cold Spring Harbor Press, Cold Spring Harbor, NY
-
Sambrook J, Russell DW (2001) Molecular cloning, a laboratory manual, 3rd edn. Cold Spring Harbor Press, Cold Spring Harbor, NY, p 68
-
(2001)
Molecular Cloning, A Laboratory Manual
, pp. 68
-
-
Sambrook, J.1
Russell, D.W.2
-
6
-
-
0033057879
-
A rapid method for haemophilia B mutation detection using CSGE
-
Hinks JL, Winship PR, Makis M, Preston IR, Goodeve AC (1999) A rapid method for haemophilia B mutation detection using CSGE. Br J Haematol 104:915-918
-
(1999)
Br J Haematol
, vol.104
, pp. 915-918
-
-
Hinks, J.L.1
Winship, P.R.2
Makis, M.3
Preston, I.R.4
Goodeve, A.C.5
-
7
-
-
0023850178
-
Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase
-
Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, ERrlich HA (1988) Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239:487-491
-
(1988)
Science
, vol.239
, pp. 487-491
-
-
Saiki, R.K.1
Gelfand, D.H.2
Stoffel, S.3
Scharf, S.J.4
Higuchi, R.5
Horn, G.T.6
Mullis, K.B.7
ERrlich, H.A.8
-
8
-
-
2442616249
-
Identification of factor IX gene defects using a multiplex PCR and CSGE strategy - A first report
-
Jayandharan G, Shaji RV, Chandy M, Srivastava A (2003) Identification of factor IX gene defects using a multiplex PCR and CSGE strategy - a first report. Thromb Haemost 1:2051-2054
-
(2003)
Thromb Haemost
, vol.1
, pp. 2051-2054
-
-
Jayandharan, G.1
Shaji, R.V.2
Chandy, M.3
Srivastava, A.4
-
9
-
-
0031957807
-
Precise carrier and prenatal diagnosis in families with hemophilia A. Use of conformation sensitive gel electrophoresis for rapid mutation screening and polymorphism analysis
-
Williams IJ, Abuzendah A, Winship PR, Preston FE, Dolan G, Wright J, Peake IR, Goodeve AC (1998) Precise carrier and prenatal diagnosis in families with hemophilia A. Use of conformation sensitive gel electrophoresis for rapid mutation screening and polymorphism analysis. Thromb Haemost 79:723-726
-
(1998)
Thromb Haemost
, vol.79
, pp. 723-726
-
-
Williams, I.J.1
Abuzendah, A.2
Winship, P.R.3
Preston, F.E.4
Dolan, G.5
Wright, J.6
Peake, I.R.7
Goodeve, A.C.8
-
10
-
-
0024500697
-
Detection of polymorphisms at cytosine phosphoguanidine polymorphisms dinucleotides and diagnosis of hemophilia B carriers
-
Winship PR et al (1989) Detection of polymorphisms at cytosine phosphoguanidine polymorphisms dinucleotides and diagnosis of hemophilia B carriers. Lancet I 631-634
-
(1989)
Lancet
, vol.1
, pp. 631-634
-
-
Winship, P.R.1
-
11
-
-
0027207410
-
An Mse 1 RFLP in the flanking region of the factor IX gene: Its use for hemophilia B carrier detection in Caucasian and Thai populations
-
Winship PR et al (1993) An Mse 1 RFLP in the flanking region of the factor IX gene: Its use for hemophilia B carrier detection in Caucasian and Thai populations. Br J Haematol 84:101-105
-
(1993)
Br J Haematol
, vol.84
, pp. 101-105
-
-
Winship, P.R.1
-
12
-
-
0025763422
-
Facile and rapid analysis of three DNA polymorphisms within the human factor IX gene using the polymerase chain reaction
-
Bowen et al (1991) Facile and rapid analysis of three DNA polymorphisms within the human factor IX gene using the polymerase chain reaction. Br J Haematol 77:559-560
-
(1991)
Br J Haematol
, vol.77
, pp. 559-560
-
-
Bowen1
-
13
-
-
0028810202
-
Diagnosis of hemophilia B carriers using two novel oligonucleotide polymorphisms and Hha 1 RFLP of the factor IX gene in Japanese subjects
-
Toyozumi et al (1995) Diagnosis of hemophilia B carriers using two novel oligonucleotide polymorphisms and Hha 1 RFLP of the factor IX gene in Japanese subjects. Thromb Haemost 74:1009-1014
-
(1995)
Thromb Haemost
, vol.74
, pp. 1009-1014
-
-
Toyozumi1
-
14
-
-
0027351077
-
Hemophilia: Strategies for carrier detection and prenatal diagnosis
-
Peake IR, Lillicrap DP, Bouljenkov V, Briet E, Chan V, Ginter EK, Kraus EM, Ljung R, Mannucci PM, Nicolaides K, Tuddenham EGD (1993) Hemophilia: strategies for carrier detection and prenatal diagnosis. Bull WHO 71:429-458
-
(1993)
Bull WHO
, vol.71
, pp. 429-458
-
-
Peake, I.R.1
Lillicrap, D.P.2
Bouljenkov, V.3
Briet, E.4
Chan, V.5
Ginter, E.K.6
Kraus, E.M.7
Ljung, R.8
Mannucci, P.M.9
Nicolaides, K.10
Tuddenham, E.G.D.11
-
15
-
-
0023709004
-
Hemophilia B Durham: A mutation in the first EGF-like domain of factor IX that is characterized by polymerase chain reaction
-
Denton DH, Fowlkes DM, Lord ST, Reissner HM (1988) Hemophilia B Durham: a mutation in the first EGF-like domain of factor IX that is characterized by polymerase chain reaction. Blood 72:1407-1411
-
(1988)
Blood
, vol.72
, pp. 1407-1411
-
-
Denton, D.H.1
Fowlkes, D.M.2
Lord, S.T.3
Reissner, H.M.4
-
16
-
-
0026211963
-
Evidence that descendants of three founders constitute about 25% of hemophilia B in the United States
-
Ketterling, RP Bottem CD Philip JA 3rd Sommer SS (1991) Evidence that descendants of three founders constitute about 25% of hemophilia B in the United States. Genomics 10:1093-1096
-
(1991)
Genomics
, vol.10
, pp. 1093-1096
-
-
Ketterling, R.P.1
Bottema, C.D.2
Phillips III, J.A.3
Sommer, S.S.4
|