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Volumn 8, Issue 4, 2009, Pages 280-281

CFTR H609R mutation in Ecuadorian patients with cystic fibrosis

Author keywords

CFTR gene; Cystic fibrosis; Ecuador; H609R; Mutation

Indexed keywords

GENOMIC DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 67649743460     PISSN: 15691993     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jcf.2009.05.001     Document Type: Article
Times cited : (10)

References (9)
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  • 4
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  • 5
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    • 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 scopus 로고    scopus 로고
    • 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
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  • 7
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    • 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 scopus 로고    scopus 로고
    • 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
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    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.