메뉴 건너뛰기




Volumn 103, Issue 6, 1998, Pages 718-722

Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0032435286     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050897     Document Type: Article
Times cited : (87)

References (33)
  • 1
    • 0028827084 scopus 로고
    • Standards for the diagnosis and care of patients with chronic obstructive pulmonary disease
    • American Thoracic Society Statement (1995) Standards for the diagnosis and care of patients with chronic obstructive pulmonary disease. Am J Respir Crit Care Med 152:877-8120
    • (1995) Am J Respir Crit Care Med , vol.152 , pp. 877-8120
  • 4
    • 26444557071 scopus 로고    scopus 로고
    • CFGAC website: http://www.genet.sickkids.on.ca/cftr
  • 6
    • 0027234275 scopus 로고
    • Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France
    • Claustres M, Laussei M, Desgeorges M, Giansily M, Culard J-F, Razakatsara G, Demaille J (1993) Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France. Hum Mol Genet 2:1209-1213
    • (1993) Hum Mol Genet , vol.2 , pp. 1209-1213
    • Claustres, M.1    Laussei, M.2    Desgeorges, M.3    Giansily, M.4    Culard, J.-F.5    Razakatsara, G.6    Demaille, J.7
  • 7
    • 0027325822 scopus 로고
    • A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations
    • Costes B, Fanen P, Goossens M, Ghanem N (1993) A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations. Hum Mutat 2:185-191
    • (1993) Hum Mutat , vol.2 , pp. 185-191
    • Costes, B.1    Fanen, P.2    Goossens, M.3    Ghanem, N.4
  • 8
    • 0026629124 scopus 로고
    • Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians
    • Cutting GR, Curristan SM, Nash E, Rosenstein BJ, Lerer I, Abeliovich D, Hill A, Graham C (1992) Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians. Am J Hum Genet 50:1185-1194
    • (1992) Am J Hum Genet , vol.50 , pp. 1185-1194
    • Cutting, G.R.1    Curristan, S.M.2    Nash, E.3    Rosenstein, B.J.4    Lerer, I.5    Abeliovich, D.6    Hill, A.7    Graham, C.8
  • 9
    • 0029928789 scopus 로고    scopus 로고
    • 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
  • 10
    • 0026780584 scopus 로고
    • Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions
    • Fanen P, Ghanem N, Vidaud M, Besmond C, Martin J, Costes B, Plassa F, Goossens M (1992) Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics 13:770-776
    • (1992) Genomics , vol.13 , pp. 770-776
    • Fanen, P.1    Ghanem, N.2    Vidaud, M.3    Besmond, C.4    Martin, J.5    Costes, B.6    Plassa, F.7    Goossens, M.8
  • 13
    • 0028178617 scopus 로고
    • Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene
    • Ghanem N, Costes B, Girodon E, Martin J, Fanen P, Goossens M (1994) Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 21:434-436
    • (1994) Genomics , vol.21 , pp. 434-436
    • Ghanem, N.1    Costes, B.2    Girodon, E.3    Martin, J.4    Fanen, P.5    Goossens, M.6
  • 16
    • 0027417904 scopus 로고
    • Two new mutations detected by single-strand conformation analysis in cystic fibrosis from Russia
    • Ivaschenko TI, Baranov VS, Dean M (1993) Two new mutations detected by single-strand conformation analysis in cystic fibrosis from Russia. Hum Genet 91:63-65
    • (1993) Hum Genet , vol.91 , pp. 63-65
    • Ivaschenko, T.I.1    Baranov, V.S.2    Dean, M.3
  • 23
    • 0028958565 scopus 로고
    • Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis
    • Pignatti PF, Bombieri C, Marigo C, Benetazzo MG, Luisetti M (1995) Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis. Hum Mol Genet 4:635-639
    • (1995) Hum Mol Genet , vol.4 , pp. 635-639
    • Pignatti, P.F.1    Bombieri, C.2    Marigo, C.3    Benetazzo, M.G.4    Luisetti, M.5
  • 25
    • 0028339374 scopus 로고
    • Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271+18C or T) identified in a patient with cystic fibrosis
    • Romey MC, Desgeorges M, Laussel M, Durand MF, Demaille J, Claustres M (1994) Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271+18C or T) identified in a patient with cystic fibrosis. Hum Mol Genet 3:1003-1004
    • (1994) Hum Mol Genet , vol.3 , pp. 1003-1004
    • Romey, M.C.1    Desgeorges, M.2    Laussel, M.3    Durand, M.F.4    Demaille, J.5    Claustres, M.6
  • 27
    • 0002529176 scopus 로고
    • Chronic bronchitis and emphysema
    • Murray JF, Nadel JA (eds) W.B. Saunders, Philadelphia
    • Snider GL, Faling LJ, Rennard SI (1994) Chronic bronchitis and emphysema. In: Murray JF, Nadel JA (eds) Textbook of respiratory medicine. W.B. Saunders, Philadelphia, pp 1331-1397
    • (1994) Textbook of Respiratory Medicine , pp. 1331-1397
    • Snider, G.L.1    Faling, L.J.2    Rennard, S.I.3
  • 28
    • 0021760026 scopus 로고
    • Computer methods to locate signals in nucleic acid sequences
    • Staden R (1984) Computer methods to locate signals in nucleic acid sequences. Nucleic Acids Res 12:505-519
    • (1984) Nucleic Acids Res , vol.12 , pp. 505-519
    • Staden, R.1
  • 29
    • 0026864933 scopus 로고
    • Identification and developmental expression of the Xenopus laevis cystic fibrosis transmembrane conductance regulator gene
    • Tucker SJ, Tannahill D, Higgins CF (1992) Identification and developmental expression of the Xenopus laevis cystic fibrosis transmembrane conductance regulator gene. Hum Mol Genet 1:77-82
    • (1992) Hum Mol Genet , vol.1 , pp. 77-82
    • Tucker, S.J.1    Tannahill, D.2    Higgins, C.F.3
  • 30
    • 26444452300 scopus 로고    scopus 로고
    • Molecular analysis of the cystic fibrosis transmembrane conductance regulator gene in 150 individuals with congenital bilateral absence of vas deferens
    • Verlingue C, Mercier B, Quere I, Brackeleer M de, Denamur E, Ferec C (1996) Molecular analysis of the cystic fibrosis transmembrane conductance regulator gene in 150 individuals with congenital bilateral absence of vas deferens. Am J Hum Genet 59 Suppl 4:A291
    • (1996) Am J Hum Genet , vol.59 , Issue.4 SUPPL.
    • Verlingue, C.1    Mercier, B.2    Quere, I.3    De Brackeleer, M.4    Denamur, E.5    Ferec, C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.