-
1
-
-
19244364425
-
First report of CFTR mutations in black cystic fibrosis patients of Southern African origin
-
Carles S., ei al. 1996. First report of CFTR mutations in black cystic fibrosis patients of Southern African origin. J Med Genet 33 : 802-804.
-
(1996)
J Med Genet
, vol.33
, pp. 802-804
-
-
Carles, S.1
-
2
-
-
0024453308
-
Identification of the cystic fibrosis gene : Chromosome walking and jumping
-
Rommens J.M., 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
-
3
-
-
0027502580
-
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
-
Chu S.C., Trapnel B.C., Curristin S., Cutting C.R., Crystal R.G. 1993. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nature Genet 3 : 151-156.
-
(1993)
Nature Genet
, vol.3
, pp. 151-156
-
-
Chu, S.C.1
Trapnel, B.C.2
Curristin, S.3
Cutting, C.R.4
Crystal, R.G.5
-
4
-
-
0031023970
-
Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells
-
Teng H., Jorissen M.,Van Poppel H., Legius E., Cassiman J.J., Cuppens H. 1997. Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells. Hum Mol Genet 6 : 85-90.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 85-90
-
-
Teng, H.1
Jorissen, M.2
Van Poppel, H.3
Legius, E.4
Cassiman, J.J.5
Cuppens, H.6
-
5
-
-
0030687683
-
Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens
-
Mak V., Jarvi K.A., Zielenski J., Durie P., Tsui L.C. 1997. Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens. Hum Mol Genet 6 : 2099-2107.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2099-2107
-
-
Mak, V.1
Jarvi, K.A.2
Zielenski, J.3
Durie, P.4
Tsui, L.C.5
-
6
-
-
0030754623
-
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations
-
Estivill X., Bancells C, Ramos C, the Biomed CF. Mutation Analysis Consortium. 1997. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. Hum Muta 10 : 135-154.
-
(1997)
Hum Muta
, vol.10
, pp. 135-154
-
-
Estivill, X.1
Bancells, C.2
Ramos, C.3
-
7
-
-
0028229223
-
The origin of the major cystic fibrosis mutation (△F508) in European populations
-
Morral N., et al. 1994. The origin of the major cystic fibrosis mutation (△F508) in European populations. Nature Genet 7 : 169-175.
-
(1994)
Nature Genet
, vol.7
, pp. 169-175
-
-
Morral, N.1
-
8
-
-
0031025214
-
Estimating the age of alleles by use of intraallelic variability
-
Slatkin M., Rannala B. 1997. Estimating the age of alleles by use of intraallelic variability. Am J Hum Genet 60 : 447-458.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 447-458
-
-
Slatkin, M.1
Rannala, B.2
-
9
-
-
0027162649
-
Molecular mechanims of CFTR chloride channel dys-function in cystic fibrosis
-
Welsh M.J., Smith A.E. 1993. Molecular mechanims of CFTR chloride channel dys-function in cystic fibrosis. Cell 73 : 1251-1254.
-
(1993)
Cell
, vol.73
, pp. 1251-1254
-
-
Welsh, M.J.1
Smith, A.E.2
-
10
-
-
13344282728
-
Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor
-
Rozmahel R M., et al. 1996. Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nat Genet 12 : 280-287.
-
(1996)
Nat Genet
, vol.12
, pp. 280-287
-
-
Rozmahel, R.M.1
-
11
-
-
0025820979
-
Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator
-
Dork T., et al. 1991. Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator. Hum Genet 87 : 441-446.
-
(1991)
Hum Genet
, vol.87
, pp. 441-446
-
-
Dork, T.1
-
12
-
-
0027521663
-
A mutation in CFTR produces different phenotypes depending on chromosomal background
-
Kiesewetter S., et al. 1993. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet 5 : 274-278.
-
(1993)
Nat Genet
, vol.5
, pp. 274-278
-
-
Kiesewetter, S.1
-
13
-
-
0029928789
-
Complexity in a monogenic disease
-
Estivill X. 1996. Complexity in a monogenic disease. Nat Genet 12 : 348-350.
-
(1996)
Nat Genet
, vol.12
, pp. 348-350
-
-
Estivill, X.1
-
14
-
-
0029025333
-
Mutations in the cystic fibrosis gene in congenital absence of the vas deferens
-
Chilion M., et al. 1995. Mutations in the cystic fibrosis gene in congenital absence of the vas deferens. N Engl J Med 332 : 1475-1480.
-
(1995)
N Engl J Med
, vol.332
, pp. 1475-1480
-
-
Chilion, M.1
-
15
-
-
0032518518
-
Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes
-
Cuppens H., et al. 1998. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. J Clin Invest 101 : 487-496.
-
(1998)
J Clin Invest
, vol.101
, pp. 487-496
-
-
Cuppens, H.1
|