-
1
-
-
0025868103
-
Demonstration that CFTR is a chloride channel by alteration of its anion selectivity
-
Andersen MP, Gregory RJ, Thompson S, Souza DW, Paul S, Mulligan RC, Smith AE, Welsh MJ (1991) Demonstration that CFTR is a chloride channel by alteration of its anion selectivity. Science 253:202-205
-
(1991)
Science
, vol.253
, pp. 202-205
-
-
Andersen, M.P.1
Gregory, R.J.2
Thompson, S.3
Souza, D.W.4
Paul, S.5
Mulligan, R.C.6
Smith, A.E.7
Welsh, M.J.8
-
2
-
-
0002314552
-
Cystic fibrosis
-
Seriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill, New York
-
Boat TF, Welsh MJ, Beaudet AL (1989) Cystic fibrosis. In: Seriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 2649-2680
-
(1989)
The Metabolic Basis of Inherited Disease, 6th Edn.
, pp. 2649-2680
-
-
Boat, T.F.1
Welsh, M.J.2
Beaudet, A.L.3
-
3
-
-
0028323310
-
Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA→G
-
Bozon D, Zielenski J, Rininsland F, Tsui L-C (1994) Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA→G. Hum Mutat 3:330-332
-
(1994)
Hum Mutat
, vol.3
, pp. 330-332
-
-
Bozon, D.1
Zielenski, J.2
Rininsland, F.3
Tsui, L.-C.4
-
5
-
-
0028033069
-
Population variation of common cystic fibrosis mutations
-
Cystic Fibrosis Genetic Analysis Consortium
-
Cystic Fibrosis Genetic Analysis Consortium (1994) Population variation of common cystic fibrosis mutations. Hum Mutat 4:167-177
-
(1994)
Hum Mutat
, vol.4
, pp. 167-177
-
-
-
6
-
-
0025106969
-
Cystic fibrosis: Complementary endeavors
-
Davies K (1990) Cystic fibrosis: complementary endeavors. Nature 348:110-111
-
(1990)
Nature
, vol.348
, pp. 110-111
-
-
Davies, K.1
-
7
-
-
0025312731
-
Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients
-
Dean M, White MB, Amos J, Gerrard B, Stewart C, Khaw K-T, Lepperl M (1990) Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. Cell 61 :863-870
-
(1990)
Cell
, vol.61
, pp. 863-870
-
-
Dean, M.1
White, M.B.2
Amos, J.3
Gerrard, B.4
Stewart, C.5
Khaw, K.-T.6
Lepperl, M.7
-
8
-
-
0025772498
-
Detecting multiple cystic fibrosis mutations by polymerase chain reaction-mediated site-directed mutagenesis
-
Friedman KJ, Highsmith WE, Silverman LM (1991) Detecting multiple cystic fibrosis mutations by polymerase chain reaction-mediated site-directed mutagenesis. Clin Chem 5:753-755
-
(1991)
Clin Chem
, vol.5
, pp. 753-755
-
-
Friedman, K.J.1
Highsmith, W.E.2
Silverman, L.M.3
-
9
-
-
8944255459
-
-
Portland. Maine, Guy Gannett Publishing
-
Hendrickson D (1980) Quiet presence. Portland. Maine, Guy Gannett Publishing
-
(1980)
Quiet Presence
-
-
Hendrickson, D.1
-
10
-
-
0024423668
-
Identification of the cystic fibrosis gene: Genetic analysis
-
Kerem B-S, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui L-C (1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245:1073-1080
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.-S.1
Rommens, J.M.2
Buchanan, J.A.3
Markiewicz, D.4
Cox, T.K.5
Chakravarti, A.6
Buchwald, M.7
Tsui, L.-C.8
-
11
-
-
0025133518
-
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene
-
Kerem B-S, Zielenski J, Markiewicz, D, Bozon D, Gazit E, Yahav J, Kennedy D, Riordan JR, Collins FS, Rommens JM, Tsui LC (1990) Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci USA 87:8447-8451
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 8447-8451
-
-
Kerem, B.-S.1
Zielenski, J.2
Markiewicz, D.3
Bozon, D.4
Gazit, E.5
Yahav, J.6
Kennedy, D.7
Riordan, J.R.8
Collins, F.S.9
Rommens, J.M.10
Tsui, L.C.11
-
12
-
-
4243458087
-
Identification of the 1507 deletion by sitedirected mutagenesis
-
Orozco L, Friedman K, Chavez M, Lezana JL, Villarreal MT, Carnevale A (1994) Identification of the 1507 deletion by sitedirected mutagenesis. Am J Med Genet 51:137-139
-
(1994)
Am J Med Genet
, vol.51
, pp. 137-139
-
-
Orozco, L.1
Friedman, K.2
Chavez, M.3
Lezana, J.L.4
Villarreal, M.T.5
Carnevale, A.6
-
13
-
-
0027457488
-
Three-base pair resolution of DNA fragments on agarose: Application to delta F508 analysis in cystic fibrosis
-
Plaha DS, Linforth GH, Ducken DP, Scott-Jupp R, Tanner MS, Jeffreys AJ (1993) Three-base pair resolution of DNA fragments on agarose: application to delta F508 analysis in cystic fibrosis. Biotechnology 14:566-567
-
(1993)
Biotechnology
, vol.14
, pp. 566-567
-
-
Plaha, D.S.1
Linforth, G.H.2
Ducken, D.P.3
Scott-Jupp, R.4
Tanner, M.S.5
Jeffreys, A.J.6
-
14
-
-
0026532741
-
Cystic fibrosis mutations in French Canadians: Three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis
-
Rozen R, DeBraekeleer M, Daigneault J, Ferreira-Rajabi L, Gerdes M, Lamoureux L, Aubin G, Simard F, Fujiwara TM, Morgan K (1992) Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis. Am J Med Genet 42:360-364
-
(1992)
Am J Med Genet
, vol.42
, pp. 360-364
-
-
Rozen, R.1
DeBraekeleer, M.2
Daigneault, J.3
Ferreira-Rajabi, L.4
Gerdes, M.5
Lamoureux, L.6
Aubin, G.7
Simard, F.8
Fujiwara, T.M.9
Morgan, K.10
-
15
-
-
8944258414
-
What happens after cloning a gene?: CFTR as an example
-
Tsui L-C (1994) What happens after cloning a gene?: CFTR as an example. Am J Hum Genet [Suppl] 55:32
-
(1994)
Am J Hum Genet
, vol.55
, Issue.SUPPL.
, pp. 32
-
-
Tsui, L.-C.1
-
16
-
-
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, Nocolas S, Goossens M (1990) Three mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis. Hum Genet 85:446-149
-
(1990)
Hum Genet
, vol.85
, pp. 446-1149
-
-
Vidaud, M.1
Fanen, P.2
Martin, J.3
Ghanem, N.4
Nocolas, S.5
Goossens, M.6
-
17
-
-
0000026508
-
Cystic fibrosis
-
Seriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill, New York
-
Welsh MJ, Tsui L-C, Boat TF, Beaudel AL (1995) Cystic fibrosis. In: Seriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th edn. McGraw-Hill, New York. pp 3799-3876
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, 7th Edn.
, pp. 3799-3876
-
-
Welsh, M.J.1
Tsui, L.-C.2
Boat, T.F.3
Beaudel, A.L.4
-
18
-
-
0025909386
-
Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
-
Zielenski J, Bozon D, Kerem B-S, Markiewicz D, Durie P, Rommens JM, Tsui L-C (1991) Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 10:229-235
-
(1991)
Genomics
, vol.10
, pp. 229-235
-
-
Zielenski, J.1
Bozon, D.2
Kerem, B.-S.3
Markiewicz, D.4
Durie, P.5
Rommens, J.M.6
Tsui, L.-C.7
|