메뉴 건너뛰기




Volumn 7, Issue 3, 1996, Pages 244-255

Cystic fibrosis mutation detection by hybridization to light-generated DNA probe arrays

Author keywords

Fluorescence detection; Genotyping; High density oligonucleotide probe arrays; Photolithography

Indexed keywords

DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0029915406     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)7:3<244::AID-HUMU9>3.0.CO;2-A     Document Type: Article
Times cited : (168)

References (16)
  • 1
    • 0002314552 scopus 로고
    • Cystic fibrosis
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds): New York: McGraw-Hill
    • Boat TF, Welsh MJ, Beaudet AL (1989) Cystic Fibrosis. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease. New York: McGraw-Hill, pp 2649-2680.
    • (1989) The Metabolic Basis of Inherited Disease , pp. 2649-2680
    • Boat, T.F.1    Welsh, M.J.2    Beaudet, A.L.3
  • 3
    • 0027023840 scopus 로고
    • Amplification and detection of specific DNA sequences with fluorescent PCR primers: Application to AF508 mutation in cystic fibrosis
    • Chehab FF, Wall J, Kan YW (1992) Amplification and detection of specific DNA sequences with fluorescent PCR primers: Application to AF508 mutation in cystic fibrosis. Methods Enzymol 216:135-143.
    • (1992) Methods Enzymol , vol.216 , pp. 135-143
    • Chehab, F.F.1    Wall, J.2    Kan, Y.W.3
  • 4
    • 0026811333 scopus 로고
    • Simultaneous screening for 11 mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex amplification and reverse dot-blot
    • Cuppens H, Buyse I, Baens M, Marynen P, Cassiman JJ (1992) Simultaneous screening for 11 mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex amplification and reverse dot-blot. Mol Cell Probes 6:33-39.
    • (1992) Mol Cell Probes , vol.6 , pp. 33-39
    • Cuppens, H.1    Buyse, I.2    Baens, M.3    Marynen, P.4    Cassiman, J.J.5
  • 5
    • 0028033069 scopus 로고
    • Population variation of common cystic fibrosis mutations
    • Cystic Fibrosis Genetic Analysis Consortium (1994) Population variation of common cystic fibrosis mutations. Hum Mutat 4:167-177.
    • (1994) Hum Mutat , vol.4 , pp. 167-177
  • 7
    • 0026108692 scopus 로고
    • Light-directed, spatially addressable parallel chemical synthesis
    • Fodor SPA, Read JL, Pirrung MC, Stryer L, Lu AT, Solas D (1991) Light-directed, spatially addressable parallel chemical synthesis. Science 251:767-773.
    • (1991) Science , vol.251 , pp. 767-773
    • Spa, F.1    Read, J.L.2    Pirrung, M.C.3    Stryer, L.4    Lu, A.T.5    Solas, D.6
  • 8
    • 0025772498 scopus 로고
    • Detecting multiple cystic fibrosis mutations by polymerase chain reactionmediated site-directed mutagenesis
    • Friedman KJ, Highsmith, Jr WE, Silverman LM (1991) Detecting multiple cystic fibrosis mutations by polymerase chain reactionmediated site-directed mutagenesis. Clin Chem 37:753-755.
    • (1991) Clin Chem , vol.37 , pp. 753-755
    • Friedman, K.J.1    Highsmith Jr., W.E.2    Silverman, L.M.3
  • 9
    • 0345243767 scopus 로고
    • The molecular pathology of cystic fibrosis
    • Heim RA, Silverman LM (eds): Durham, NC: Carolina Academic Press
    • Highsmith WE (1994) The molecular pathology of cystic fibrosis. In Heim RA, Silverman LM (eds): Molecular Pathology. Durham, NC: Carolina Academic Press, pp 95-118.
    • (1994) Molecular Pathology , pp. 95-118
    • Highsmith, W.E.1
  • 11
    • 0028206730 scopus 로고
    • Screening for CF mutations in adult cystic fibrosis patients with a directed and optimized SSCP strategy
    • Ravnik-Glavac M, Glavac D, Chernick M, Saint'Agnese P, Dean M (1994) Screening for CF mutations in adult cystic fibrosis patients with a directed and optimized SSCP strategy. Hum Mutat 3:231-238.
    • (1994) Hum Mutat , vol.3 , pp. 231-238
    • Ravnik-Glavac, M.1    Glavac, D.2    Chernick, M.3    Saint'Agnese, P.4    Dean, M.5
  • 12
    • 0024438993 scopus 로고
    • A computer program for choosing optimal oligonucleotides for filter hybridization, sequencing and in vitro amplification of DNA
    • Rychlik W, Rhoads RE (1989) A computer program for choosing optimal oligonucleotides for filter hybridization, sequencing and in vitro amplification of DNA. Nucleic Acids Res 17:8543-8551.
    • (1989) Nucleic Acids Res , vol.17 , pp. 8543-8551
    • Rychlik, W.1    Rhoads, R.E.2
  • 13
    • 0028269692 scopus 로고
    • Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis
    • Verlingue C, Mercier B, Lecoq I, Audrezet MP, Laroche D, Travert G, Ferec C (1994) Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis. Hum Genet 93:429-434.
    • (1994) Hum Genet , vol.93 , pp. 429-434
    • Verlingue, C.1    Mercier, B.2    Lecoq, I.3    Audrezet, M.P.4    Laroche, D.5    Travert, G.6    Ferec, C.7
  • 14
    • 0029024219 scopus 로고
    • A 31-mutation assay for cystic fibrosis testing in the clinical molecular diagnostics laboratory
    • Wall J, Cai S, Chehab FF (1995) A 31-mutation assay for cystic fibrosis testing in the clinical molecular diagnostics laboratory. Hum Mutat 5:333-338.
    • (1995) Hum Mutat , vol.5 , pp. 333-338
    • Wall, J.1    Cai, S.2    Chehab, F.F.3
  • 15
    • 0025944267 scopus 로고
    • DNA probes: Applications of the principles of nucleic acid hybridization
    • Wetmur JG (1991) DNA probes: Applications of the principles of nucleic acid hybridization. Grit Rev Biochem Mol Biol 26:227-259.
    • (1991) Grit Rev Biochem Mol Biol , vol.26 , pp. 227-259
    • Wetmur, J.G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.