-
2
-
-
0026758866
-
De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: Demonstration of exon skipping by ectopic transcript analysis
-
Berg L-P, Grundy CB, Thomas F, et al. De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis. Genomics 1992; 13: 1359-1361.
-
(1992)
Genomics
, vol.13
, pp. 1359-1361
-
-
Berg, L.-P.1
Grundy, C.B.2
Thomas, F.3
-
3
-
-
0027517303
-
Splice site mutation in the human protein C gene associated with venous thrombosis: Demonstration of exon skipping by illegitimate transcript analysis
-
Lind B, van Solinge W, Schwartz M, Thorsen S. Splice site mutation in the human protein C gene associated with venous thrombosis: demonstration of exon skipping by illegitimate transcript analysis. Blood 1993; 82: 2423-2432.
-
(1993)
Blood
, vol.82
, pp. 2423-2432
-
-
Lind, B.1
Van Solinge, W.2
Schwartz, M.3
Thorsen, S.4
-
4
-
-
23444453692
-
Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I
-
Reitsma PH, Ploos van Amstel HK, Bertina RM. Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I. J Clin Invest 1994; 93: 486-492.
-
(1994)
J Clin Invest
, vol.93
, pp. 486-492
-
-
Reitsma, P.H.1
Ploos Van Amstel, H.K.2
Bertina, R.M.3
-
5
-
-
0029112835
-
Detection and characterization of seven novel protein S (PROS) gene lesions: Evaluation of reverse transcript polymerase chain reaction as a mutation screening strategy
-
Formstone CJ, Wacey AI, Berg L-P, et al. Detection and characterization of seven novel protein S (PROS) gene lesions: evaluation of reverse transcript polymerase chain reaction as a mutation screening strategy. Wood 1995; 86: 2632-2641.
-
(1995)
Wood
, vol.86
, pp. 2632-2641
-
-
Formstone, C.J.1
Wacey, A.I.2
Berg, L.-P.3
-
6
-
-
0029057730
-
Protein S mRNA in patients with protein S deficiency
-
Sacchi E, Pinotti M, Marchetti G, et al. Protein S mRNA in patients with protein S deficiency. Thromb Haemost 1995; 73: 746-749.
-
(1995)
Thromb Haemost
, vol.73
, pp. 746-749
-
-
Sacchi, E.1
Pinotti, M.2
Marchetti, G.3
-
7
-
-
0027029553
-
Illegitimate transcription: Its use in the study of inherited disease
-
Kaplan J-C, Kahn A, Chelly J. Illegitimate transcription: its use in the study of inherited disease. Hum Mutation 1992; 1: 357-360.
-
(1992)
Hum Mutation
, vol.1
, pp. 357-360
-
-
Kaplan, J.-C.1
Kahn, A.2
Chelly, J.3
-
8
-
-
0028055085
-
Ectopic (illegitimate) transcription: New possibilities for the analysis and diagnosis of human genetic disease
-
Cooper DN, Berg L-P, Kakkar VV, Reiss J. Ectopic (illegitimate) transcription: new possibilities for the analysis and diagnosis of human genetic disease. Ann Med 1994; 26: 9-14.
-
(1994)
Ann Med
, vol.26
, pp. 9-14
-
-
Cooper, D.N.1
Berg, L.-P.2
Kakkar, V.V.3
Reiss, J.4
-
10
-
-
0025003450
-
Intron-exon organisation of the active human protein S gene PSα and its pseudogene PSβ: Duplication and silencing during primate evolution
-
Ploos van Amstel HK, Reitsma PH, van der Logt CPE, Bertina RM. Intron-exon organisation of the active human protein S gene PSα and its pseudogene PSβ: duplication and silencing during primate evolution. Biochemistry 1990; 29: 7853-7861.
-
(1990)
Biochemistry
, vol.29
, pp. 7853-7861
-
-
Ploos Van Amstel, H.K.1
Reitsma, P.H.2
Van Der Logt, C.P.E.3
Bertina, R.M.4
-
11
-
-
0025035552
-
Organisation of the human protein S genes
-
Schmidel DK, Tatro AV, Phelbs LG, Tomczak JA, Long GL. Organisation of the human protein S genes. Biochemistry 1990; 29: 7845-7852.
-
(1990)
Biochemistry
, vol.29
, pp. 7845-7852
-
-
Schmidel, D.K.1
Tatro, A.V.2
Phelbs, L.G.3
Tomczak, J.A.4
Long, G.L.5
-
12
-
-
0025182946
-
Molecular analysis of the gene for vitamin K-dependent protein S and its pseudogene. Cloning and partial gene organisation
-
Edenbrandt C-M, Lundwall A, Wydro R, Stenflo J. Molecular analysis of the gene for vitamin K-dependent protein S and its pseudogene. Cloning and partial gene organisation. Biochemistry 1990; 29: 7861-7868.
-
(1990)
Biochemistry
, vol.29
, pp. 7861-7868
-
-
Edenbrandt, C.-M.1
Lundwall, A.2
Wydro, R.3
Stenflo, J.4
-
13
-
-
0021992349
-
Hereditary thrombosis in a Utah kindred is caused by a dysfunctional antithrombin III gene
-
Bock SC, Harris JF, Schwartz CE, Ward JE, Hershgold EJ, Skolnick MH. Hereditary thrombosis in a Utah kindred is caused by a dysfunctional antithrombin III gene. Am J Hum Genet 1985; 37: 32-41.
-
(1985)
Am J Hum Genet
, vol.37
, pp. 32-41
-
-
Bock, S.C.1
Harris, J.F.2
Schwartz, C.E.3
Ward, J.E.4
Hershgold, E.J.5
Skolnick, M.H.6
-
14
-
-
0025978384
-
Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene
-
Naylor JA, Green PM, Montandon AJ, Rizza CR, Giannclli F. Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene. Lancet 1991; 337: 635-639.
-
(1991)
Lancet
, vol.337
, pp. 635-639
-
-
Naylor, J.A.1
Green, P.M.2
Montandon, A.J.3
Rizza, C.R.4
Giannclli, F.5
-
15
-
-
0025665174
-
Molecular analysis of human argininosuccinate lyase: Mutant characterisation and alternative splicing of the coding region
-
Walker DC, McLoskcy DA, Simard LR, McInnes RR. Molecular analysis of human argininosuccinate lyase: mutant characterisation and alternative splicing of the coding region. Proc Natl Acad Sci USA 1990; 87: 9625-9629.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 9625-9629
-
-
Walker, D.C.1
McLoskcy, D.A.2
Simard, L.R.3
McInnes, R.R.4
-
16
-
-
0025996473
-
Effect of deletion of glycoprotein IIb exon 28 on the expression of platelet glycoprotein IIb/IIIa complex
-
Kolodziej MA, Vilaire G, Rifat S, Poncz M, Bennett JS. Effect of deletion of glycoprotein IIb exon 28 on the expression of platelet glycoprotein IIb/IIIa complex. Blood 1991; 78: 2344-2353.
-
(1991)
Blood
, vol.78
, pp. 2344-2353
-
-
Kolodziej, M.A.1
Vilaire, G.2
Rifat, S.3
Poncz, M.4
Bennett, J.S.5
-
17
-
-
0025887110
-
Adenosine deaminase deficiency due to heterozygous abnormality consisting of a deletion of exon 7 and the absence of enzyme mRNA
-
Kashii S, Ito K, Monden S, et al. Adenosine deaminase deficiency due to heterozygous abnormality consisting of a deletion of exon 7 and the absence of enzyme mRNA. J Cell Biochem 1994; 47: 49-53.
-
(1994)
J Cell Biochem
, vol.47
, pp. 49-53
-
-
Kashii, S.1
Ito, K.2
Monden, S.3
-
18
-
-
0025642715
-
Direct analysis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA
-
Roberts RG, Bentley DR, Barby TFM, Manners E, Bobrow M. Direct analysis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA. Lancet 1990; 336: 1523-1526.
-
(1990)
Lancet
, vol.336
, pp. 1523-1526
-
-
Roberts, R.G.1
Bentley, D.R.2
Barby, T.F.M.3
Manners, E.4
Bobrow, M.5
-
19
-
-
0026800854
-
Omission of exon 12 in CFTR gene transcripts
-
Slomski R, Schlösser M, Berg L-P, Wagner M, Kakkar VV, Cooper DN, Reiss J. Omission of exon 12 in CFTR gene transcripts. Hum Genet 1992; 89: 615-619.
-
(1992)
Hum Genet
, vol.89
, pp. 615-619
-
-
Slomski, R.1
Schlösser, M.2
Berg, L.-P.3
Wagner, M.4
Kakkar, V.V.5
Cooper, D.N.6
Reiss, J.7
-
20
-
-
0027971631
-
Complex pattern of alternative splicing in the normal uroporphyrinogen decarboxylase gene: Implications for diagnosis of familial porphyria cutanea tarda
-
McManus JF, Begley CG, Ratnaike S. Complex pattern of alternative splicing in the normal uroporphyrinogen decarboxylase gene: implications for diagnosis of familial porphyria cutanea tarda. Clin Chem 1994; 40: 1884-1889.
-
(1994)
Clin Chem
, vol.40
, pp. 1884-1889
-
-
McManus, J.F.1
Begley, C.G.2
Ratnaike, S.3
-
21
-
-
0029918582
-
Homozygosity for R87H missense mutation and for a rare intron 7 DNA variant (7054G→ A) in the protein C genes of three siblings initially classified as heterozygotes for protein C deficiency
-
Soria JM, Morell M, Nicolau I, Estivill X, Sala N. Homozygosity for R87H missense mutation and for a rare intron 7 DNA variant (7054G→ A) in the protein C genes of three siblings initially classified as heterozygotes for protein C deficiency. Blood Coag Fibrinol 1996; 7: 15-23.
-
(1996)
Blood Coag Fibrinol
, vol.7
, pp. 15-23
-
-
Soria, J.M.1
Morell, M.2
Nicolau, I.3
Estivill, X.4
Sala, N.5
-
22
-
-
0023277545
-
Single-step method of RNA isolation by acid guanidinium thiocyanatephenol-chloroform extraction
-
Chomczynski P, Sacchi N. Single-step method of RNA isolation by acid guanidinium thiocyanatephenol-chloroform extraction. Anal Biochem 1987; 162: 156-159.
-
(1987)
Anal Biochem
, vol.162
, pp. 156-159
-
-
Chomczynski, P.1
Sacchi, N.2
-
23
-
-
0025153045
-
Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA
-
Berg L-P, Wieland K, Millar DS, et al. Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA. Hum Genet 1990; 85: 655-658.
-
(1990)
Hum Genet
, vol.85
, pp. 655-658
-
-
Berg, L.-P.1
Wieland, K.2
Millar, D.S.3
-
24
-
-
0027438343
-
Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency
-
Soria JM, Fontcuberta J, Chillon M, Borrell M, Estivil X, Sala N. Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency. Hum Genet 1993; 92: 506-508.
-
(1993)
Hum Genet
, vol.92
, pp. 506-508
-
-
Soria, J.M.1
Fontcuberta, J.2
Chillon, M.3
Borrell, M.4
Estivil, X.5
Sala, N.6
-
25
-
-
0029948287
-
Ectopic transcript analysis indicates that allelic exclusion is an important cause of type I protein C deficiency in patients with nonsense and frameshift mutations in the PROC gene
-
Soria JM, Berg L-P, Fontcuberta J, et al. Ectopic transcript analysis indicates that allelic exclusion is an important cause of type I protein C deficiency in patients with nonsense and frameshift mutations in the PROC gene. Thromb Haemost 1996; 75: 870-876.
-
(1996)
Thromb Haemost
, vol.75
, pp. 870-876
-
-
Soria, J.M.1
Berg, L.-P.2
Fontcuberta, J.3
-
26
-
-
0025906695
-
Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium
-
Chu C-S, Trapnell BC, Murtagh JJ, et al. Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium. EMBO J 1991; 10: 1355-1363.
-
(1991)
EMBO J
, vol.10
, pp. 1355-1363
-
-
Chu, C.-S.1
Trapnell, B.C.2
Murtagh, J.J.3
-
27
-
-
0028004006
-
Molecular basis for type I antithrombin deficiency: Identification of two novel point mutations and evidence for a de novo splice site mutation
-
Jochmans K, Lissens W, Yin T, et al. Molecular basis for type I antithrombin deficiency: identification of two novel point mutations and evidence for a de novo splice site mutation. Blood 1994; 84: 3742-3748.
-
(1994)
Blood
, vol.84
, pp. 3742-3748
-
-
Jochmans, K.1
Lissens, W.2
Yin, T.3
-
28
-
-
0029101074
-
Ectopic transcript analysis in human antithrombin deficiency
-
Perry DJ. Ectopic transcript analysis in human antithrombin deficiency. Blood Coag Fibrinol 1995; 6: 531-536.
-
(1995)
Blood Coag Fibrinol
, vol.6
, pp. 531-536
-
-
Perry, D.J.1
-
29
-
-
1242348114
-
The nucleotide sequence of the gene for human protein C
-
Foster DC, Yoshitake S, Davie E. The nucleotide sequence of the gene for human protein C. Proc Natl Acad Sci USA 1985; 82: 4673-4677.
-
(1985)
Proc Natl Acad Sci USA
, vol.82
, pp. 4673-4677
-
-
Foster, D.C.1
Yoshitake, S.2
Davie, E.3
|