메뉴 건너뛰기




Volumn 33, Issue 1, 1996, Pages 73-76

Clinical features of cystic fibrosis patients with rare genotypes

Author keywords

2183 AA G mutation; Cystic fibrosis; I148T mutation; R553X mutation

Indexed keywords

ARTICLE; CLINICAL FEATURE; CYSTIC FIBROSIS; GENE MUTATION; GENOTYPE; HEREDITY; HETEROZYGOTE; HUMAN; PRIORITY JOURNAL;

EID: 0030025417     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.1.73     Document Type: Article
Times cited : (9)

References (19)
  • 2
    • 0025133246 scopus 로고
    • Population analysis of the major mutation in cystic fibrosis
    • Romeo G, Devoto M. Population analysis of the major mutation in cystic fibrosis. Hum Genet 1992;85:391-145.
    • (1992) Hum Genet , vol.85 , pp. 391-1145
    • Romeo, G.1    Devoto, M.2
  • 3
  • 4
    • 19144363921 scopus 로고
    • Analysis of 22 mutations and of the XV2c and KM19 polymorphisms in 132 chromosomes of cystic fibrosis patients from the Naples (Italy) area
    • Castaldo G, Salvatore F, Sebastio G, et al. Analysis of 22 mutations and of the XV2c and KM19 polymorphisms in 132 chromosomes of cystic fibrosis patients from the Naples (Italy) area. J Tumor Marker Oncol 1994;9:71.
    • (1994) J Tumor Marker Oncol , vol.9 , pp. 71
    • Castaldo, G.1    Salvatore, F.2    Sebastio, G.3
  • 5
    • 0028323310 scopus 로고
    • Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: I148T, LI077P, Y1092X, 2183 AA→G
    • Bozon D, Zielinski J, Rininsland F, et al. Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: I148T, LI077P, Y1092X, 2183 AA→G. Hum Mutat 1994;3:330-4.
    • (1994) Hum Mutat , vol.3 , pp. 330-334
    • Bozon, D.1    Zielinski, J.2    Rininsland, F.3
  • 6
    • 0026734588 scopus 로고
    • Genetic determination of pancreatic function in cystic fibrosis
    • Kristidis P, Bozon D, Corey M, et al. Genetic determination of pancreatic function in cystic fibrosis. Am J Hum Genet 1993;50:1178-84.
    • (1993) Am J Hum Genet , vol.50 , pp. 1178-1184
    • Kristidis, P.1    Bozon, D.2    Corey, M.3
  • 7
    • 0028321427 scopus 로고
    • Mutation analysis in 600 French cystic fibrosis patients
    • Chevalier-Porst F, Bonardot AM, Gilly R, et al. Mutation analysis in 600 French cystic fibrosis patients. J Med Genet 1994;31:541-4.
    • (1994) J Med Genet , vol.31 , pp. 541-544
    • Chevalier-Porst, F.1    Bonardot, A.M.2    Gilly, R.3
  • 8
    • 0024463492 scopus 로고
    • DNA amplification for detection of the XV 2c polymorphism linked to cystic fibrosis
    • Rosenbloom CL, Kerem BS, Rommens JM, et al. DNA amplification for detection of the XV 2c polymorphism linked to cystic fibrosis. Nucleic Acids Res 1989;17:7117.
    • (1989) Nucleic Acids Res , vol.17 , pp. 7117
    • Rosenbloom, C.L.1    Kerem, B.S.2    Rommens, J.M.3
  • 9
    • 0023931993 scopus 로고
    • Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM 19 polymorphism
    • Feldman GL, Williamson R, Beaudet AL, O'Brien WE. Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM 19 polymorphism. Lancet 1988;i:102.
    • (1988) Lancet , vol.1 , pp. 102
    • Feldman, G.L.1    Williamson, R.2    Beaudet, A.L.3    O'Brien, W.E.4
  • 10
    • 0025840576 scopus 로고
    • CA/GT micro-satellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover
    • Morral N, Nunes V, Casals T, Estivill X. CA/GT micro-satellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover. Genomics 1991;10:692-8.
    • (1991) Genomics , vol.10 , pp. 692-698
    • Morral, N.1    Nunes, V.2    Casals, T.3    Estivill, X.4
  • 11
    • 0025241696 scopus 로고
    • The relation between genotype and phenotype in cystic fibrosis: Analysis of the most common mutation
    • Kerem E, Corey M, Kerem ES, et al. The relation between genotype and phenotype in cystic fibrosis: analysis of the most common mutation. N Engl J Med 1990;323:1517-22.
    • (1990) N Engl J Med , vol.323 , pp. 1517-1522
    • Kerem, E.1    Corey, M.2    Kerem, E.S.3
  • 12
    • 0027517995 scopus 로고
    • Correlation between genotype and phenotype in patients with cystic fibrosis
    • The Cystic Fibrosis Genotype-Phenotype Consortium. Correlation between genotype and phenotype in patients with cystic fibrosis. N Engl J Med 1993;329:1308-13.
    • (1993) N Engl J Med , vol.329 , pp. 1308-1313
  • 13
    • 0028220333 scopus 로고
    • Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations
    • Dean M, Santis G. Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations. Hum Genet 1994;93:364-8.
    • (1994) Hum Genet , vol.93 , pp. 364-368
    • Dean, M.1    Santis, G.2
  • 14
    • 0028902968 scopus 로고
    • Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from North Eastern Italy: Identification of 90% of the mutations
    • Bonizzato A, Bisceglia L, Mango C, et al. Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from North Eastern Italy: identification of 90% of the mutations. Hum Genet 1995;95:397-402.
    • (1995) Hum Genet , vol.95 , pp. 397-402
    • Bonizzato, A.1    Bisceglia, L.2    Mango, C.3
  • 15
    • 0026692084 scopus 로고
    • Mild pulmonary disease in a cystic fibrosis child homozygous for R553X
    • Cheadle J, Al-Jader L, Goodchild M, Meredith AL. Mild pulmonary disease in a cystic fibrosis child homozygous for R553X. J Med Genet 1992;29:597.
    • (1992) J Med Genet , vol.29 , pp. 597
    • Cheadle, J.1    Al-Jader, L.2    Goodchild, M.3    Meredith, A.L.4
  • 16
  • 17
    • 0025775435 scopus 로고
    • Discrimination between recurrent mutation and identity by descent: Application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene
    • Reiss J, Cooper DN, Bal J, et al Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene. Hum Genet 1991;87:457-61.
    • (1991) Hum Genet , vol.87 , pp. 457-461
    • Reiss, J.1    Cooper, D.N.2    Bal, J.3
  • 18
    • 0026322140 scopus 로고
    • Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis
    • Hamosh A, Trapnell BC, Zeitlin PL, et al. Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis. J Clin Invest 1991;88:1880-5.
    • (1991) J Clin Invest , vol.88 , pp. 1880-1885
    • Hamosh, A.1    Trapnell, B.C.2    Zeitlin, P.L.3
  • 19
    • 0027451874 scopus 로고
    • CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X
    • Will K, Reiss J, Dean M, et al. CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X. J Med Genet 1993;30:833-7.
    • (1993) J Med Genet , vol.30 , pp. 833-837
    • Will, K.1    Reiss, J.2    Dean, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.