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Volumn 53, Issue 5, 1998, Pages 383-386

Mild cystic fibrosis mutations in Southern Sweden with special reference to S549I and T338I

Author keywords

Cystic fibrosis; Missense mutations; Pancreatic sufficiency; Pulmonary function; S549I; T338I

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0031776081     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb02750.x     Document Type: Article
Times cited : (3)

References (14)
  • 3
    • 0028910076 scopus 로고
    • The cystic fibrosis transmembrane conductance regulator gene
    • Tsui L-C. The cystic fibrosis transmembrane conductance regulator gene. Am J Respir Crit Care Med 1995: 151: 47-53.
    • (1995) Am J Respir Crit Care Med , vol.151 , pp. 47-53
    • Tsui, L.-C.1
  • 4
    • 0029866870 scopus 로고    scopus 로고
    • The molecular basis for disease variability in cystic fibrosis
    • Kerem B-S, Kerem E. The molecular basis for disease variability in cystic fibrosis. Eur J Hum Genet 1996: 4: 65-73.
    • (1996) Eur J Hum Genet , vol.4 , pp. 65-73
    • Kerem, B.-S.1    Kerem, E.2
  • 8
    • 0028340603 scopus 로고
    • A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR
    • Schaedel C, Kristoffersson A-C, Kornfält R, Holmberg L. A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR. Hum Mol Genet 1994: 3: 1001-1002.
    • (1994) Hum Mol Genet , vol.3 , pp. 1001-1002
    • Schaedel, C.1    Kristoffersson, A.-C.2    Kornfält, R.3    Holmberg, L.4
  • 9
    • 0027330222 scopus 로고
    • Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent
    • Saba L, Leoni G, Meloni A, Faa V, Cao A, Rosatelli M. Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent. Hum Mol Genet 1993: 2: 1739-1740.
    • (1993) Hum Mol Genet , vol.2 , pp. 1739-1740
    • Saba, L.1    Leoni, G.2    Meloni, A.3    Faa, V.4    Cao, A.5    Rosatelli, M.6
  • 10
    • 0029128156 scopus 로고
    • A specific cystic fibrosis mutation (T338I) associated with the phenotype of isolated hypotonic dehydration
    • Leoni G, Pitzalis S, Podda R, Zanda M, Silvetti M, Caocci L, Cao A, Rosatelli M. A specific cystic fibrosis mutation (T338I) associated with the phenotype of isolated hypotonic dehydration. J Pediatr 1995: 127: 281-283.
    • (1995) J Pediatr , vol.127 , pp. 281-283
    • Leoni, G.1    Pitzalis, S.2    Podda, R.3    Zanda, M.4    Silvetti, M.5    Caocci, L.6    Cao, A.7    Rosatelli, M.8
  • 11
    • 0029869939 scopus 로고    scopus 로고
    • Mild CF phenotype associated with T338I missense mutation
    • Padoan R, Cremonesi L, Giunta A. Mild CF phenotype associated with T338I missense mutation. J Pediatr 1996: 128: 721-722.
    • (1996) J Pediatr , vol.128 , pp. 721-722
    • Padoan, R.1    Cremonesi, L.2    Giunta, A.3
  • 12
  • 13
    • 0025242929 scopus 로고
    • Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
    • Cheng S, Gregory R, Marshall J, Paul S, Souza D, White G, O'Riordan C, Smith A. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 1990: 63: 827-834.
    • (1990) Cell , vol.63 , pp. 827-834
    • Cheng, S.1    Gregory, R.2    Marshall, J.3    Paul, S.4    Souza, D.5    White, G.6    O'Riordan, C.7    Smith, A.8
  • 14
    • 0027502580 scopus 로고
    • Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
    • Chu C-S, Trapnell B, Curristin S, Cutting G, Crystal R. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet 1993: 3: 151-156.
    • (1993) Nat Genet , vol.3 , pp. 151-156
    • Chu, C.-S.1    Trapnell, B.2    Curristin, S.3    Cutting, G.4    Crystal, R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.