-
1
-
-
0000026508
-
Cystic fibrosis
-
Scriver C.R., Beaudet A.L., and Sly W.S.L. (Eds), McGraw-Hill, New York
-
Welsh M.J., Tsui L.C., Boat T.F., and Beaudet A.L. Cystic fibrosis. In: Scriver C.R., Beaudet A.L., and Sly W.S.L. (Eds). The metabolic and molecular bases of inherited disease (1995), McGraw-Hill, New York 3799-3876
-
(1995)
The metabolic and molecular bases of inherited disease
, pp. 3799-3876
-
-
Welsh, M.J.1
Tsui, L.C.2
Boat, T.F.3
Beaudet, A.L.4
-
2
-
-
0030473619
-
Genotype-phenotype correlation in cystic fibrosis
-
Kerem E., and Kerem B. Genotype-phenotype correlation in cystic fibrosis. Pediatr Pulmonol 22 (1996) 387-395
-
(1996)
Pediatr Pulmonol
, vol.22
, pp. 387-395
-
-
Kerem, E.1
Kerem, B.2
-
3
-
-
67649709975
-
-
on.ca/cftr
-
Castellani C, Cuppens H, Macek Jr M, Cassiman JJ, Kerem E, Durie P, et al. Cystic Fibrosis Mutation Database. www.genet.sickkids.on.ca/cftr.
-
Cystic Fibrosis Mutation Database
-
-
Castellani, C.1
Cuppens, H.2
Macek Jr, M.3
Cassiman, J.J.4
Kerem, E.5
Durie, P.6
-
4
-
-
0038412795
-
Spatial patterns of cystic fibrosis mutation spectra in European populations
-
Lao O., Andrés A.M., Mateu E., Bertranpetit J., and Calafell F. Spatial patterns of cystic fibrosis mutation spectra in European populations. Eur J Hum Genet 11 (2003) 385-394
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 385-394
-
-
Lao, O.1
Andrés, A.M.2
Mateu, E.3
Bertranpetit, J.4
Calafell, F.5
-
5
-
-
43549114493
-
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
-
Castellani C., Cuppens H., Macek Jr. M., Cassiman J.J., Kerem E., Durie P., et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 7 (2008) 179-196
-
(2008)
J Cyst Fibros
, vol.7
, pp. 179-196
-
-
Castellani, C.1
Cuppens, H.2
Macek Jr., M.3
Cassiman, J.J.4
Kerem, E.5
Durie, P.6
-
6
-
-
34247104434
-
CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent
-
Pérez M.M., Luna M.C., Pivetta O.H., and Keyeux G. CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent. J Cyst Fibros 6 (2007) 194-208
-
(2007)
J Cyst Fibros
, vol.6
, pp. 194-208
-
-
Pérez, M.M.1
Luna, M.C.2
Pivetta, O.H.3
Keyeux, G.4
-
7
-
-
34248186994
-
Analysis of CFTR gene mutations and cystic fibrosis incidence in the Ecuadorian population
-
Valle E.P., Burgos R.I., Valle J.R., Egas Béjar D., and Ruiz-Cabezas J.C. Analysis of CFTR gene mutations and cystic fibrosis incidence in the Ecuadorian population. Invest Clin 48 (2007) 91-98
-
(2007)
Invest Clin
, vol.48
, pp. 91-98
-
-
Valle, E.P.1
Burgos, R.I.2
Valle, J.R.3
Egas Béjar, D.4
Ruiz-Cabezas, J.C.5
-
8
-
-
0035020939
-
Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling
-
Le Maréchal C., Audrézet M.P., Quéré I., Raguénès O., Langonné S., and Férec C. Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling. Hum Genet 108 (2001) 290-298
-
(2001)
Hum Genet
, vol.108
, pp. 290-298
-
-
Le Maréchal, C.1
Audrézet, M.P.2
Quéré, I.3
Raguénès, O.4
Langonné, S.5
Férec, C.6
-
9
-
-
4644361735
-
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
-
Watson M.S., Cutting G.R., Desnick R.J., Driscoll D.A., Klinger K., Mennuti M., et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 6 (2004) 387-391
-
(2004)
Genet Med
, vol.6
, pp. 387-391
-
-
Watson, M.S.1
Cutting, G.R.2
Desnick, R.J.3
Driscoll, D.A.4
Klinger, K.5
Mennuti, M.6
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