메뉴 건너뛰기




Volumn 2, Issue , 2002, Pages 1-8

Survey of CF mutations in the clinical laboratory

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 3342953579     PISSN: 14726890     EISSN: None     Source Type: Journal    
DOI: 10.1186/1472-6890-2-1     Document Type: Review
Times cited : (8)

References (24)
  • 1
    • 3342917979 scopus 로고
    • Prenatal diagnosis of cystic fibrosis
    • (Edited by: Milunsky A) Baltimore, John Hopkins Univ. Press
    • Amos JA: Prenatal Diagnosis of Cystic Fibrosis. In: Genetic Disorders and the fetus (Edited by: Milunsky A) Baltimore, John Hopkins Univ. Press 1992, 411-425
    • (1992) Genetic Disorders and the Fetus , pp. 411-425
    • Amos, J.A.1
  • 3
    • 3342975135 scopus 로고
    • Molecular biology of cystic fibrosis
    • (Edited by: Friedmann T) New York, Academic press
    • Drumm ML, Collins FS: Molecular Biology of Cystic Fibrosis. In: Molecular Medicine (Edited by: Friedmann T) New York, Academic press 1991, 33-68
    • (1991) Molecular Medicine , pp. 33-68
    • Drumm, M.L.1    Collins, F.S.2
  • 4
    • 0024988766 scopus 로고
    • Abnormal distribution of CF ΔF508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens
    • Dumur V, Gervais R, Rigot JM, Lafitte JJ, Manouvrier S, Biserte J, Mazeman E, Roussel P: Abnormal distribution of CF ΔF508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens. Lancet 1990, 336:512
    • (1990) Lancet , vol.336 , pp. 512
    • Dumur, V.1    Gervais, R.2    Rigot, J.M.3    Lafitte, J.J.4    Manouvrier, S.5    Biserte, J.6    Mazeman, E.7    Roussel, P.8
  • 5
    • 0027533326 scopus 로고
    • High frequency of the R117H cystic fibrosismutation in patients with congenital absence of the vas deferens
    • Gervais R, Dumur V, Rigot JM, Lafitte JJ, Roussel P, Claustres M, Demaille J: High frequency of the R117H cystic fibrosismutation in patients with congenital absence of the vas deferens. N Eng J Med 1993, 328:446-447
    • (1993) N Eng J Med , vol.328 , pp. 446-447
    • Gervais, R.1    Dumur, V.2    Rigot, J.M.3    Lafitte, J.J.4    Roussel, P.5    Claustres, M.6    Demaille, J.7
  • 8
    • 0031889465 scopus 로고    scopus 로고
    • Cellular heterogeneity of CFTR expression and function in the lung. Implications for gene therapy of cystic fibrosis
    • Jiang Q, Engelhardt JF: Cellular heterogeneity of CFTR expression and function in the lung. implications for gene therapy of cystic fibrosis. Eur J Hum Genet 1998, 6:12-31
    • (1998) Eur J Hum Genet , vol.6 , pp. 12-31
    • Jiang, Q.1    Engelhardt, J.F.2
  • 9
    • 0031689866 scopus 로고    scopus 로고
    • Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator
    • Vankeerberghen A, Wie L, Jaspers M, Cassiman J-J, Nilius B, Cuppens H: Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator. Hum Mol Genet 1998, 7:1761-1769
    • (1998) Hum Mol Genet , vol.7 , pp. 1761-1769
    • Vankeerberghen, A.1    Wie, L.2    Jaspers, M.3    Cassiman, J.-J.4    Nilius, B.5    Cuppens, H.6
  • 11
    • 0030032379 scopus 로고    scopus 로고
    • Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane conductance regulator (CFTR): Correlation between genotype and phenotype
    • Dumur V, Gervais R, Rigot J-M, Delomel-Vinner E, Decaestecker B, Lafitte J-J, Roussel P: Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane conductance regulator (CFTR): correlation between genotype and phenotype. Hum Genet 1996, 97:7-10
    • (1996) Hum Genet , vol.97 , pp. 7-10
    • Dumur, V.1    Gervais, R.2    Rigot, J.-M.3    Delomel-Vinner, E.4    Decaestecker, B.5    Lafitte, J.-J.6    Roussel, P.7
  • 13
    • 0030749512 scopus 로고    scopus 로고
    • Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: Association of the 5T allele with selected CFTR mutations and ist incidence in atypical sinopulmonary disease
    • Friedman KJ, Heim RA, Knowles MR, Silverman LM: Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and ist incidence in atypical sinopulmonary disease. Hum Mut 1997, 10(2):108-115
    • (1997) Hum Mut , vol.10 , Issue.2 , pp. 108-115
    • Friedman, K.J.1    Heim, R.A.2    Knowles, M.R.3    Silverman, L.M.4
  • 16
    • 0006294996 scopus 로고
    • Erratum
    • Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsik N, Chou JL, Drumm ML, Ianuzzi MC, Collins FS, Tsui LC: Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989, 245:1066-73(Erratum, Science 1989,245:1437).
    • (1989) Science , vol.245 , pp. 1437
  • 18
    • 0028860909 scopus 로고
    • Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations
    • Wilschanski M, Zielenski J, Markiewicz D, Tsui LC, Corey M, Levison H, Durie PR: Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations. J Pediatr 1995, 127:705-710
    • (1995) J Pediatr , vol.127 , pp. 705-710
    • Wilschanski, M.1    Zielenski, J.2    Markiewicz, D.3    Tsui, L.C.4    Corey, M.5    Levison, H.6    Durie, P.R.7
  • 19
    • 0027502580 scopus 로고
    • Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
    • Chu CS, Trapnell BC, Curristin S, Cutting GR, Crystal RG: Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nature Genet 1993, 3:151-156
    • (1993) Nature Genet , vol.3 , pp. 151-156
    • Chu, C.S.1    Trapnell, B.C.2    Curristin, S.3    Cutting, G.R.4    Crystal, R.G.5
  • 22
    • 0029083274 scopus 로고
    • Molecular and clinical findings in Austrian cystic fibrosis patients with mutations in exon 11 of the CFTR gene
    • Greil I, Wagner K, Eber E, Zach M, Rosenkranz W: Molecular and clinical findings in Austrian cystic fibrosis patients with mutations in exon 11 of the CFTR gene. Wien Klin Wochenschr 1995, 107(15):464-469
    • (1995) Wien Klin Wochenschr , vol.107 , Issue.15 , pp. 464-469
    • Greil, I.1    Wagner, K.2    Eber, E.3    Zach, M.4    Rosenkranz, W.5
  • 23
    • 3342904087 scopus 로고    scopus 로고
    • Personal communication with our referring clinicians (General Hospital Wien (AKH), Hospital Lainz, Preyer'sches Hospital, Sozialmedizinisches Zentrum-Ost, Wilhelminen Hospital, Vienna, Austria)
    • Personal communication with our referring clinicians (General Hospital Wien (AKH), Hospital Lainz, Preyer'sches Hospital, Sozialmedizinisches Zentrum-Ost, Wilhelminen Hospital, Vienna, Austria).
  • 24
    • 0036092502 scopus 로고    scopus 로고
    • Development and evaluation of a PCR-based, line probe assay for the detection of 58 alleles in the cystic fibrosis transmembrane conductance regulator (CFTR) gene
    • Wang X, Myers A, Saiki RK, Cutting GR: Development and evaluation of a PCR-based, line probe assay for the detection of 58 alleles in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Clin Chem 2002, 48(7):1121-1123
    • (2002) Clin Chem , vol.48 , Issue.7 , pp. 1121-1123
    • Wang, X.1    Myers, A.2    Saiki, R.K.3    Cutting, G.R.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.