-
1
-
-
0027534755
-
Identification of 12 novel mutations in the CFTR gene
-
Audrézet MP, Mercier B, Guillermit H, Quéré I, Verlingue C, Rault G, Férec C (1993) Identification of 12 novel mutations in the CFTR gene. Hum Mol Genet 2:51-54.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 51-54
-
-
Audrézet, M.P.1
Mercier, B.2
Guillermit, H.3
Quéré, I.4
Verlingue, C.5
Rault, G.6
Férec, C.7
-
2
-
-
0026773625
-
A new mutation (1078delT) in exon 7 of the CFTR gene in a Southern french adult with cystic fibrosis
-
Claustres M, Gerrard B, White MB, Desgeorges M, Kjellberg P, Rollin B, Dean M (1992) A new mutation (1078delT) in exon 7 of the CFTR gene in a Southern french adult with cystic fibrosis. Genomics 13:907-908.
-
(1992)
Genomics
, vol.13
, pp. 907-908
-
-
Claustres, M.1
Gerrard, B.2
White, M.B.3
Desgeorges, M.4
Kjellberg, P.5
Rollin, B.6
Dean, M.7
-
3
-
-
0027234275
-
Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France
-
Claustres M, Laussel M, Desgeorges M, Giansily M, Culard JF, Razakatsara G, Demaille J (1993) Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France. Hum Mol Genet 2:1209-1213.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1209-1213
-
-
Claustres, M.1
Laussel, M.2
Desgeorges, M.3
Giansily, M.4
Culard, J.F.5
Razakatsara, G.6
Demaille, J.7
-
4
-
-
0027325822
-
A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations
-
Costes B, Fanen P, Goossens M, Ghanem N (1993) A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations. Hum Mutat 2:185-191.
-
(1993)
Hum Mutat
, vol.2
, pp. 185-191
-
-
Costes, B.1
Fanen, P.2
Goossens, M.3
Ghanem, N.4
-
5
-
-
0025310336
-
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein
-
Cutting GR, Kasch, LM, Rosenstein BJ, Zielenski J, Tsui L-C, Kazazian HH, Antonorakis SE (1990) A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature 346:366-369.
-
(1990)
Nature
, vol.346
, pp. 366-369
-
-
Cutting, G.R.1
Kasch, L.M.2
Rosenstein, B.J.3
Zielenski, J.4
Tsui, L.-C.5
Kazazian, H.H.6
Antonorakis, S.E.7
-
7
-
-
0028120355
-
A novel mutation (G1249R) in exon 20 of the CFTR gene
-
Dijkstra DJW, Scheffer H, Buys CHCM (1994) A novel mutation (G1249R) in exon 20 of the CFTR gene. Hum Mutat 4:161-162.
-
(1994)
Hum Mutat
, vol.4
, pp. 161-162
-
-
Dijkstra, D.J.W.1
Scheffer, H.2
Buys, C.H.C.M.3
-
8
-
-
0026641782
-
The spectrum of cystic fibrosis mutations
-
Tsui L-C (1992) The spectrum of cystic fibrosis mutations. Trends Genet 8:392-398.
-
(1992)
Trends Genet
, vol.8
, pp. 392-398
-
-
Tsui, L.-C.1
-
10
-
-
0025013961
-
Three mutations in the CFTR gene in French Cystic Fibrosis patients: Identification by denaturing gradient gel electrophoresis
-
Vidaud M, Fanen P, Martin J, Ghanem N, Nicolas S, Goossens M (1990) Three mutations in the CFTR gene in French Cystic Fibrosis patients: Identification by denaturing gradient gel electrophoresis. Hum Genet 85:446-449.
-
(1990)
Hum Genet
, vol.85
, pp. 446-449
-
-
Vidaud, M.1
Fanen, P.2
Martin, J.3
Ghanem, N.4
Nicolas, S.5
Goossens, M.6
-
11
-
-
0029446073
-
Two-dimensional DNA typing: A cost-effective way of analyzing complex mixtures of DNA fragments for sequence variations
-
Vijg J (1995a) Two-dimensional DNA typing: a cost-effective way of analyzing complex mixtures of DNA fragments for sequence variations. Mol Biotechnol 4:275-295.
-
(1995)
Mol Biotechnol
, vol.4
, pp. 275-295
-
-
Vijg, J.1
-
12
-
-
15444379118
-
Detecting individual genetic variation
-
Vijg J (1995b) Detecting individual genetic variation. Bio/Technology 13:137-139.
-
(1995)
Bio/Technology
, vol.13
, pp. 137-139
-
-
Vijg, J.1
-
13
-
-
0027939805
-
Two-dimensional DNA electrophoresis in mutation detection
-
Vijg J, Wu Y, Uitterlinden AG, Mullaart E (1994) Two-dimensional DNA electrophoresis in mutation detection. Mutat Res 308:205-214.
-
(1994)
Mutat Res
, vol.308
, pp. 205-214
-
-
Vijg, J.1
Wu, Y.2
Uitterlinden, A.G.3
Mullaart, E.4
-
14
-
-
0025760318
-
Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
-
Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan J, R, Rommens J, Tsui L-C (1991) Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 10:214-228.
-
(1991)
Genomics
, vol.10
, pp. 214-228
-
-
Zielenski, J.1
Rozmahel, R.2
Bozon, D.3
Kerem, B.4
Grzelczak, Z.5
Riordan, J.R.6
Rommens, J.7
Tsui, L.-C.8
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