-
1
-
-
0002314552
-
Cystic Fibrosis
-
Scriver CL, Beaudet A.L., Sly W.S., Valle D. (eds) New York: McGraw-Hill
-
Boat TF, Welsh MJ, Beaudet AL (1989) Cystic Fibrosis. In Scriver CL, Beaudet A.L., Sly W.S., Valle D. (eds). The Metabolic Basis of Inherited Disease, 6th ed. New York: McGraw-Hill, pp 2649-2680.
-
(1989)
The Metabolic Basis of Inherited Disease, 6th Ed.
, pp. 2649-2680
-
-
Boat, T.F.1
Welsh, M.J.2
Beaudet, A.L.3
-
2
-
-
0025242929
-
Defective intra-cellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
-
Cheng SH, Gregory RJ, Marshall J, Paul S, Souza DW, White GA, O'Riordan CR, and Smith AE, (1990) Defective intra-cellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 63:827-834.
-
(1990)
Cell
, vol.63
, pp. 827-834
-
-
Cheng, S.H.1
Gregory, R.J.2
Marshall, J.3
Paul, S.4
Souza, D.W.5
White, G.A.6
O'Riordan, C.R.7
Smith, A.E.8
-
3
-
-
0026523829
-
Cystic fibrosis: Molecular biology and therapeutic implications
-
Collins FS (1992) Cystic fibrosis: Molecular biology and therapeutic implications. Science 256:774-779.
-
(1992)
Science
, vol.256
, pp. 774-779
-
-
Collins, F.S.1
-
4
-
-
0024021305
-
Reactivity of cytosine and thymine in single base pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations
-
Cotton RGH, Rodrigues NR, Campbell RD, (1988) Reactivity of cytosine and thymine in single base pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc Natl Acad Sci USA 85:4397-4401.
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 4397-4401
-
-
Cotton, R.G.H.1
Rodrigues, N.R.2
Campbell, R.D.3
-
5
-
-
0026337305
-
Chloride conductance expressed by ΔF508 and other mutant CFTRs in Xenopus oocytes
-
Drumm JL, Wilkinson DJ, Smit LS, Worrell RT, Strong TV, Frizzell RA, Dawson DC, and Collins FS (1991) Chloride conductance expressed by ΔF508 and other mutant CFTRs in Xenopus oocytes. Science 254:1797-1799.
-
(1991)
Science
, vol.254
, pp. 1797-1799
-
-
Drumm, J.L.1
Wilkinson, D.J.2
Smit, L.S.3
Worrell, R.T.4
Strong, T.V.5
Frizzell, R.A.6
Dawson, D.C.7
Collins, F.S.8
-
6
-
-
0028153853
-
Identification of a novel missense mutation (G314F) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency
-
Golla A, Deufel A, Aulehla-Scholz C, Bohm I, Hilz B, Meitinger T, Deufel T (1994) Identification of a novel missense mutation (G314F) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency. Hum Mutat 3:67-68.
-
(1994)
Hum Mutat
, vol.3
, pp. 67-68
-
-
Golla, A.1
Deufel, A.2
Aulehla-Scholz, C.3
Bohm, I.4
Hilz, B.5
Meitinger, T.6
Deufel, T.7
-
7
-
-
1642606690
-
Scanning detection of mutations in human ornithine transcarbamylase by chemical mismatch cleavage
-
Grompe M, Muzny DM, Caskey CT (1989) Scanning detection of mutations in human ornithine transcarbamylase by chemical mismatch cleavage. Proc Natl Acad Sci USA 86:5888-5892.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 5888-5892
-
-
Grompe, M.1
Muzny, D.M.2
Caskey, C.T.3
-
8
-
-
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
-
9
-
-
0024337096
-
Direct sequencing from low-melt agarose with sequenase
-
Kretz KA, Carson GS, O'Brien JS (1989) Direct sequencing from low-melt agarose with sequenase. Nucl Acids Res 17:586-589.
-
(1989)
Nucl Acids Res
, vol.17
, pp. 586-589
-
-
Kretz, K.A.1
Carson, G.S.2
O'Brien, J.S.3
-
10
-
-
0027481813
-
The cystic fibrosis transmembrane conductance regulator
-
Riordan JR (1993) The cystic fibrosis transmembrane conductance regulator. Annu Rev Physiol 55:609-630.
-
(1993)
Annu Rev Physiol
, vol.55
, pp. 609-630
-
-
Riordan, J.R.1
-
11
-
-
0024424270
-
Identification of the cystic fibrosis gene: Cloning and characterization of the complementary DNA
-
Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, et al. (1989) Identification of the cystic fibrosis gene: Cloning and characterization of the complementary DNA. Science 245:1066-1073.
-
(1989)
Science
, vol.245
, pp. 1066-1073
-
-
Riordan, J.R.1
Rommens, J.M.2
Kerem, B.3
Alon, N.4
Rozmahel, R.5
Grzelczak, Z.6
Zielenski, J.7
-
12
-
-
0024453308
-
Identification of the cystic fibrosis gene: Chromosome walking and jumping
-
Rommens JM, Iannuzzi MC, Kerem B, Drum ML, Melmer G, Dean M, Rozmahel R, et al. (1989) Identification of the cystic fibrosis gene: Chromosome walking and jumping. Science 245: 1059-1065.
-
(1989)
Science
, vol.245
, pp. 1059-1065
-
-
Rommens, J.M.1
Iannuzzi, M.C.2
Kerem, B.3
Drum, M.L.4
Melmer, G.5
Dean, M.6
Rozmahel, R.7
-
13
-
-
0001442557
-
Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes
-
Saiki RK, Walsh PS, Levenson CH, Erlich HA (1989) Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes. Proc Natl Acad Sci USA 86:6230-6234.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 6230-6234
-
-
Saiki, R.K.1
Walsh, P.S.2
Levenson, C.H.3
Erlich, H.A.4
-
14
-
-
0004136246
-
-
Cold Spring Harbor, New York: Cold Spring Harbor Laboratory Press
-
Sambrook J, Fritsch EF, Manniatis T, (eds) (1989) Molecular Cloning: A Laboratory Manual, 2nd ed. Cold Spring Harbor, New York: Cold Spring Harbor Laboratory Press, pp 14.14-14.20.
-
(1989)
Molecular Cloning: A Laboratory Manual, 2nd Ed.
-
-
Sambrook, J.1
Fritsch, E.F.2
Manniatis, T.3
-
15
-
-
0027408231
-
Mutations in CFTR associated with milddisease-form C-channels with altered pore properties
-
Sheppard DN, Rich DP, Ostedgaard LS, Gregory RJ, Smith AE, Welsh MJ (1993) Mutations in CFTR associated with milddisease-form C-channels with altered pore properties. Nature 362:160-164.
-
(1993)
Nature
, vol.362
, pp. 160-164
-
-
Sheppard, D.N.1
Rich, D.P.2
Ostedgaard, L.S.3
Gregory, R.J.4
Smith, A.E.5
Welsh, M.J.6
-
16
-
-
0027364318
-
Functional Roles of the nucleotide-binding folds in the activation of cystic fibrosis transmembrane conductance regulator
-
Smit LS, Wilkinson DJ, Mansoura MK, Collins, FS, Dawson, DC (1993) Functional Roles of the nucleotide-binding folds in the activation of cystic fibrosis transmembrane conductance regulator. Proc Natl Acad Sci USA 90:9963-9967.
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 9963-9967
-
-
Smit, L.S.1
Wilkinson, D.J.2
Mansoura, M.K.3
Collins, F.S.4
Dawson, D.C.5
-
17
-
-
0027026460
-
Characterization of an Intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene
-
Strong TV, Smit LS, Nasr S, Wood DL, Cole JL, Iannuzzi MC, Stern RC, Collins FS (1992) Characterization of an Intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Hum Mutat 1:380-387.
-
(1992)
Hum Mutat
, vol.1
, pp. 380-387
-
-
Strong, T.V.1
Smit, L.S.2
Nasr, S.3
Wood, D.L.4
Cole, J.L.5
Iannuzzi, M.C.6
Stern, R.C.7
Collins, F.S.8
-
18
-
-
0025938893
-
Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels
-
Strong TV, Smit LS, Turpin SV, Cole JL, TomHon C, Markiewicz D, Petty TL, et al. (1991) Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels. N Engl J Med 325:1630-1634.
-
(1991)
N Engl J Med
, vol.325
, pp. 1630-1634
-
-
Strong, T.V.1
Smit, L.S.2
Turpin, S.V.3
Cole, J.L.4
Tomhon, C.5
Markiewicz, D.6
Petty, T.L.7
-
19
-
-
0025277214
-
Abnormal regulation of ion channels in cystic fibrosis epithelia
-
Welsh MJ (1990) Abnormal regulation of ion channels in cystic fibrosis epithelia. FASEB J 4:2718-2725.
-
(1990)
FASEB J
, vol.4
, pp. 2718-2725
-
-
Welsh, M.J.1
-
20
-
-
0027162649
-
Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis
-
Welsh MJ, Smith AE (1993) Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 73:1251-1254.
-
(1993)
Cell
, vol.73
, pp. 1251-1254
-
-
Welsh, M.J.1
Smith, A.E.2
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