-
1
-
-
0002314552
-
Cystic fibrosis
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill, New York
-
Boat TF, Welsh MJ, Beaudet AL 1989 Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disorder. McGraw-Hill, New York, p 2649-2680
-
(1989)
The Metabolic Basis of Inherited Disorder
, pp. 2649-2680
-
-
Boat, T.F.1
Welsh, M.J.2
Beaudet, A.L.3
-
2
-
-
0025242929
-
Defective intracellular transport and processing is the molecular basis of most cystic fibrosis
-
Cheng SH, Gregory RJ, Marshall J et al 1990 Defective intracellular transport and processing 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
-
4
-
-
0028196665
-
CFTR haplotype backgrounds on normal and mutant CFTR genes
-
Cuppens H, Teng H, Raeymaekers P, De Boeck C, Cassiman J-J 1994 CFTR haplotype backgrounds on normal and mutant CFTR genes. Hum Mol Genet 3:607-614
-
(1994)
Hum Mol Genet
, vol.3
, pp. 607-614
-
-
Cuppens, H.1
Teng, H.2
Raeymaekers, P.3
De Boeck, C.4
Cassiman, J.-J.5
-
5
-
-
0028033069
-
Population variation of common cystic fibrosis mutations
-
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
-
-
0028325745
-
Mutational processes of simple sequence repeat loci in human populations
-
Di Rienzo A, Peterson AC, Garza JC, Valdes AM, Slatkin M, Freimer NB 1994 Mutational processes of simple sequence repeat loci in human populations. Proc Natl Acad Sci USA 91:3166-3170
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 3166-3170
-
-
Di Rienzo, A.1
Peterson, A.C.2
Garza, J.C.3
Valdes, A.M.4
Slatkin, M.5
Freimer, N.B.6
-
7
-
-
0027987227
-
Age of the ΔF508 cystic fibrosis mutation - Reply
-
Estivill X, Morral N, Bertranpetit J 1994 Age of the ΔF508 cystic fibrosis mutation - reply. Nat Genet 8:216-218
-
(1994)
Nat Genet
, vol.8
, pp. 216-218
-
-
Estivill, X.1
Morral, N.2
Bertranpetit, J.3
-
8
-
-
0028062781
-
Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model
-
Gabriel SE, Brigman KN, Koller BH, Boucher RC, Stutts MJ 1994 Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model. Science 266:107-109
-
(1994)
Science
, vol.266
, pp. 107-109
-
-
Gabriel, S.E.1
Brigman, K.N.2
Koller, B.H.3
Boucher, R.C.4
Stutts, M.J.5
-
10
-
-
0020314984
-
Allele multiplicity in simple mendelian disorders
-
Hartl DL, Campbell RB 1982 Allele multiplicity in simple mendelian disorders. Am J Hum Genet 34:866-873
-
(1982)
Am J Hum Genet
, vol.34
, pp. 866-873
-
-
Hartl, D.L.1
Campbell, R.B.2
-
11
-
-
0001935493
-
Gene genealogies and the coalescent process
-
Hudson RR 1990 Gene genealogies and the coalescent process. Oxf Surv Evol Biol 7:1-44
-
(1990)
Oxf Surv Evol Biol
, vol.7
, pp. 1-44
-
-
Hudson, R.R.1
-
12
-
-
0028364565
-
Complex gene conversion events in germ line mutation at human minisatellites
-
Jeffreys AJ, Tanawi K, MacLeod A, Monckton DG, Neil DL 1994 Complex gene conversion events in germ line mutation at human minisatellites. Nat Genet 6:136-145
-
(1994)
Nat Genet
, vol.6
, pp. 136-145
-
-
Jeffreys, A.J.1
Tanawi, K.2
MacLeod, A.3
Monckton, D.G.4
Neil, D.L.5
-
13
-
-
0023899127
-
A test of the heterozygote-advantage hypothesis in cystic fibrosis carriers
-
Jorde LB, Lathrop GM 1988 A test of the heterozygote-advantage hypothesis in cystic fibrosis carriers. Am J Hum Genet 42:808-815
-
(1988)
Am J Hum Genet
, vol.42
, pp. 808-815
-
-
Jorde, L.B.1
Lathrop, G.M.2
-
15
-
-
0026907529
-
Mislocalization of ΔF508 CFTR in cystic fibrosis sweat glands
-
Kartner N, Augustinas O, Jensen TJ, Naismith AL, Riordan JR 1992 Mislocalization of ΔF508 CFTR in cystic fibrosis sweat glands. Nat Genet 1:321-327
-
(1992)
Nat Genet
, vol.1
, pp. 321-327
-
-
Kartner, N.1
Augustinas, O.2
Jensen, T.J.3
Naismith, A.L.4
Riordan, J.R.5
-
16
-
-
0014086491
-
On the selective advantage of cystic fibrosis heterozygotes
-
Knudson AG, Wayne L, Hallett WY 1967 On the selective advantage of cystic fibrosis heterozygotes. Am J Hum Genet 19:388-392
-
(1967)
Am J Hum Genet
, vol.19
, pp. 388-392
-
-
Knudson, A.G.1
Wayne, L.2
Hallett, W.Y.3
-
17
-
-
0027613288
-
A more detailed map of the cystic fibrosis mutation ΔF508 frequencies in Europe
-
Lucotte G, Loirat F 1993 A more detailed map of the cystic fibrosis mutation ΔF508 frequencies in Europe. Hum Biol 65:503-507
-
(1993)
Hum Biol
, vol.65
, pp. 503-507
-
-
Lucotte, G.1
Loirat, F.2
-
19
-
-
0028043995
-
Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10Kbc → T provide evidence of mutation recurrence in the CFTR gene
-
Morral N, Llevadot R, Casals T et al 1994a Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10Kbc → T provide evidence of mutation recurrence in the CFTR gene. Am J Hum Genet 55:890-898
-
(1994)
Am J Hum Genet
, vol.55
, pp. 890-898
-
-
Morral, N.1
Llevadot, R.2
Casals, T.3
-
20
-
-
0028229223
-
The origin of the major cystic fibrosis mutation (ΔF508) in European populations
-
Morral N, Bertranpetit J, Estivill X et al 1994b The origin of the major cystic fibrosis mutation (ΔF508) in European populations. Nat Genet 7:169-175
-
(1994)
Nat Genet
, vol.7
, pp. 169-175
-
-
Morral, N.1
Bertranpetit, J.2
Estivill, X.3
-
21
-
-
0021038163
-
Estimation of the coancestry coefficient: Basis for a short term genetic distance
-
Reynolds J, Weir BS, Cockerham CC 1983 Estimation of the coancestry coefficient: basis for a short term genetic distance. Genetics 105:767-779
-
(1983)
Genetics
, vol.105
, pp. 767-779
-
-
Reynolds, J.1
Weir, B.S.2
Cockerham, C.C.3
-
22
-
-
0024424270
-
Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
-
Riordan JR, Rommens JM, Kerem B-S et al 1989 Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245:1066-1073
-
(1989)
Science
, vol.245
, pp. 1066-1073
-
-
Riordan, J.R.1
Rommens, J.M.2
Kerem, B.-S.3
-
23
-
-
0024842075
-
Why is the cystic fibrosis gene so frequent?
-
Romeo G, Devoto M, Galietta L-J 1989 Why is the cystic fibrosis gene so frequent? Hum Genet 84:1-5
-
(1989)
Hum Genet
, vol.84
, pp. 1-5
-
-
Romeo, G.1
Devoto, M.2
Galietta, L.-J.3
-
24
-
-
0004067507
-
-
Soffer O, Gamble C (eds) Unwin Hyman, London
-
Soffer O, Gamble C (eds) 1990 The world at 18000 BP. Unwin Hyman, London
-
(1990)
The World at 18000 BP
-
-
-
25
-
-
0017481191
-
Is the most frequent allele the oldest?
-
Watterson GA, Guess HA 1977 Is the most frequent allele the oldest? Theor Popul Biol 11:141-160
-
(1977)
Theor Popul Biol
, vol.11
, pp. 141-160
-
-
Watterson, G.A.1
Guess, H.A.2
-
26
-
-
0027161022
-
Mutation of human short tandem repeats
-
Weber JL, Wong C 1993 Mutation of human short tandem repeats. Hum Mol Genet 2:1123-1128
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1123-1128
-
-
Weber, J.L.1
Wong, C.2
-
27
-
-
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
-
28
-
-
0026763138
-
Cystic fibrosis transmembrane conductance regulator: A chloride channel with novel regulation
-
Welsh MJ, Anderson MP, Rich DP et al 1992 Cystic fibrosis transmembrane conductance regulator: a chloride channel with novel regulation. Neuron 8:821-829
-
(1992)
Neuron
, vol.8
, pp. 821-829
-
-
Welsh, M.J.1
Anderson, M.P.2
Rich, D.P.3
|