메뉴 건너뛰기




Volumn 22, Issue 6, 1997, Pages 519-521

Cystic fibrosis transmembrane conductance regulator gene mutations in severe nasal polyposis

Author keywords

Cystic fibrosis; Gene mutations; Nasal polyps

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0031421874     PISSN: 03077772     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2273.1997.00058.x     Document Type: Article
Times cited : (38)

References (19)
  • 1
    • 0027408529 scopus 로고
    • Universal community carrier screening for cystic fibrosis?
    • WILLIAMSON R. (1993) Universal community carrier screening for cystic fibrosis? Nat. Genet. 3, 195-201
    • (1993) Nat. Genet. , vol.3 , pp. 195-201
    • Williamson, R.1
  • 2
    • 0024453308 scopus 로고
    • Identification of the cystic fibrosis gene: Chromosome walking and jumping
    • ROMMENS J., IANNUZZI M., KEREM B.S. 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.1    Iannuzzi, M.2    Kerem, B.S.3
  • 3
    • 0024424270 scopus 로고
    • Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
    • RIORDAN J., ROMENS J., 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.1    Romens, J.2    Kerem, B.S.3
  • 4
    • 0024423668 scopus 로고
    • Identification of the cystic fibrosis gene: Genetic analysis
    • KEREM B.S., ROMMENS J., BUCHANAN J. et al. (1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245, 1073-1080
    • (1989) Science , vol.245 , pp. 1073-1080
    • Kerem, B.S.1    Rommens, J.2    Buchanan, J.3
  • 5
    • 0025856773 scopus 로고
    • Mild cystic fibrosis in a child homozygous for G542 non-sense mutation in CF gene
    • BONDUELLE M., LISSENS W., LIEBAERS I., MALFOOT A. & DAB I. (1991) Mild cystic fibrosis in a child homozygous for G542 non-sense mutation in CF gene. Lancet 338, 189.
    • (1991) Lancet , vol.338 , pp. 189
    • Bonduelle, M.1    Lissens, W.2    Liebaers, I.3    Malfoot, A.4    Dab, I.5
  • 6
    • 0025831754 scopus 로고
    • Cystic fibrosis and congenital absence of the vas deferens
    • RIGOT J.M., LAFFITTE J.J., DUMUR V. et al. (1991) Cystic fibrosis and congenital absence of the vas deferens. (Letter) New Eng. J. Med. 325, 64-65
    • (1991) New Eng. J. Med. , vol.325 , pp. 64-65
    • Rigot, J.M.1    Laffitte, J.J.2    Dumur, V.3
  • 7
    • 0025938893 scopus 로고
    • Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels
    • STRONG T.V., SMIT L.S., TURPIN S.V. et al. (1991) Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels. N. Eng. J. Med. 325, 1630-1634
    • (1991) N. Eng. J. Med. , vol.325 , pp. 1630-1634
    • Strong, T.V.1    Smit, L.S.2    Turpin, S.V.3
  • 8
    • 0026562867 scopus 로고
    • Congenital bilateral absence of the vas deferens: A primarily genital form of cystic fibrosis
    • ANGUIANO, A., OATES R.D., AMOS J.A. et al. (1992) Congenital bilateral absence of the vas deferens: a primarily genital form of cystic fibrosis. JAMA 267, 1794-1992
    • (1992) JAMA , vol.267 , pp. 1794-1992
    • Anguiano, A.1    Oates, R.D.2    Amos, J.A.3
  • 9
    • 0026734588 scopus 로고
    • Genetic determination of exocrine pancreatic function in cystic fibrosis
    • KRISTIDIS, P., BOZON D., CORY M. et al. (1992) Genetic determination of exocrine pancreatic function in cystic fibrosis. Am. J. Hum. Genet. 50, 1178-1184
    • (1992) Am. J. Hum. Genet. , vol.50 , pp. 1178-1184
    • Kristidis, P.1    Bozon, D.2    Cory, M.3
  • 10
    • 0028794627 scopus 로고
    • Is congenital absence of the vas deferens a primary form of cystic fibrosis? Analysis of the CFTR gene in 67 patients
    • MERCIER B., VERLINGUE, C., LISSENS W. et al. (1995) Is congenital absence of the vas deferens a primary form of cystic fibrosis? Analysis of the CFTR gene in 67 patients. Am. J. Hum. Genet. 56, 272-277
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 272-277
    • Mercier, B.1    Verlingue, C.2    Lissens, W.3
  • 11
    • 0029147140 scopus 로고
    • Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591 del18) in the CFTR gene
    • VARON, R., MAGDORF, K., STAAB, D. et al. (1995) Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591 del18) in the CFTR gene. Hum. Mol. Genet. 4, 1463-1464
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1463-1464
    • Varon, R.1    Magdorf, K.2    Staab, D.3
  • 12
    • 0030466375 scopus 로고    scopus 로고
    • The 3849 + 10 kB C-T mutation in a 21-year-old patient with cystic fibrosis
    • KAPLAN D.M., NIV A., AVIRAM M. et al. (1996) The 3849 + 10 kB C-T mutation in a 21-year-old patient with cystic fibrosis. ENT-Ear Nose Throat J. 793-795
    • (1996) ENT-Ear Nose Throat J. , pp. 793-795
    • Kaplan, D.M.1    Niv, A.2    Aviram, M.3
  • 13
    • 0025868894 scopus 로고
    • Genetic influences in the formation of nasal polyps
    • BÜRGER J., MACEK M., STUHRMANN M. et al. (1991) Genetic influences in the formation of nasal polyps. Lancet. 337, 974
    • (1991) Lancet , vol.337 , pp. 974
    • Bürger, J.1    Macek, M.2    Stuhrmann, M.3
  • 14
    • 0027175323 scopus 로고
    • Cystic fibrosis identified by neonatal screening; incidence, genotype and early natural history
    • GREEN M.R., WEAVER L.T., HEELEY A.F. et al. (1993) Cystic fibrosis identified by neonatal screening; incidence, genotype and early natural history. Arch. Dis. Child. 68, 464-467
    • (1993) Arch. Dis. Child. , vol.68 , pp. 464-467
    • Green, M.R.1    Weaver, L.T.2    Heeley, A.F.3
  • 16
    • 0027517995 scopus 로고
    • Correlation between genotype and phenotype in patients with cystic fibrosis
    • THE CYSTIC FIBROSIS GENOTYPE-PHENOTYPE CONSORTIUM. (1993) Correlation between genotype and phenotype in patients with cystic fibrosis. N. Eng. J. Med. 329, 1308-1313
    • (1993) N. Eng. J. Med. , vol.329 , pp. 1308-1313
  • 17
    • 0028060160 scopus 로고
    • Increased ion transport in cultured nasal polyp epithelial cells
    • BERNSTEIN J.M. & YANKASKAS J.R. (1994) Increased ion transport in cultured nasal polyp epithelial cells. Arch. Otolaryngol. Head Neck Surg. 120, 993-996
    • (1994) Arch. Otolaryngol. Head Neck Surg. , vol.120 , pp. 993-996
    • Bernstein, J.M.1    Yankaskas, J.R.2
  • 19
    • 0029928789 scopus 로고    scopus 로고
    • Complexity in a monogenic disease
    • ESTIVILL, X. (1996) Complexity in a monogenic disease. Nat. Genet. 22(4), 348-350
    • (1996) Nat. Genet. , vol.22 , Issue.4 , pp. 348-350
    • Estivill, X.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.