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Volumn 50, Issue 4, 2004, Pages 773-775

Detection of five common CFTR mutations by rapid-cycle real-time amplification refractory mutation system PCR

Author keywords

[No Author keywords available]

Indexed keywords

ETHIDIUM BROMIDE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 1842503792     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2003.030445     Document Type: Article
Times cited : (7)

References (11)
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    • Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland
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  • 4
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    • Sensitivity of single-stranded conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene
    • Ravik-Glavac M, Glavac D, Dean D. Sensitivity of single-stranded conformation polymorphism and heteroduplex method for mutation detection In the cystic fibrosis gene. Hum Mol Genet 1994;3:801-7.
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    • Ravik-Glavac, M.1    Glavac, D.2    Dean, D.3
  • 5
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    • Development, multiplexing and application of ARMS tests for common mutations in the CFTR gene
    • Ferrie RM, Schwarz MJ, Robertson NH, Vaudin S, Super M, Malone G, et al. Development, multiplexing and application of ARMS tests for common mutations in the CFTR gene. Am J Hum Genet 1992;51:251-62.
    • (1992) Am J Hum Genet , vol.51 , pp. 251-262
    • Ferrie, R.M.1    Schwarz, M.J.2    Robertson, N.H.3    Vaudin, S.4    Super, M.5    Malone, G.6
  • 6
    • 1842475515 scopus 로고    scopus 로고
    • Limitations of melting curve analysis using Sybr Green 1 - Fragment differentiation and mutation detection in the CFTR-gene
    • Dietmaier W, Wittwer C, Sivasubramanian N, eds. Berlin: Springer
    • Kleinle S, Tabiti K, Gallati S. Limitations of melting curve analysis using Sybr Green 1 - fragment differentiation and mutation detection in the CFTR-gene. In: Dietmaier W, Wittwer C, Sivasubramanian N, eds. Rapid cycle real-time PCR methods and applications (genetics and oncology). Berlin: Springer, 2002:47-56.
    • (2002) Rapid Cycle Real-time PCR Methods and Applications (Genetics and Oncology) , pp. 47-56
    • Kleinle, S.1    Tabiti, K.2    Gallati, S.3
  • 7
    • 1842423075 scopus 로고    scopus 로고
    • Rapid screening for five major cystic fibrosis mutations by melting peak analysis using fluorogenic hybridisation probes
    • Dietmaier W, Wittwer C, Sivasubramanian N, eds. Berlin: Springer
    • Burggraf S, Malik N, Schumacher E, Olgemöller B. Rapid screening for five major cystic fibrosis mutations by melting peak analysis using fluorogenic hybridisation probes. In: Dietmaier W, Wittwer C, Sivasubramanian N, eds. Rapid cycle real-time PCR methods and applications (genetics and oncology). Berlin: Springer, 2002:85-94.
    • (2002) Rapid Cycle Real-time PCR Methods and Applications (Genetics and Oncology) , pp. 85-94
    • Burggraf, S.1    Malik, N.2    Schumacher, E.3    Olgemöller, B.4
  • 8
    • 0032751267 scopus 로고    scopus 로고
    • A novel assay for allelic discrimination that combines the fluorogenic 5′ nuclease polymerase chain reaction (TaqMan®) and mismatch amplification mutation assay
    • Glaab W, Skopek TR. A novel assay for allelic discrimination that combines the fluorogenic 5′ nuclease polymerase chain reaction (TaqMan®) and mismatch amplification mutation assay. Mutat Res 1999;430:1-12.
    • (1999) Mutat Res , vol.430 , pp. 1-12
    • Glaab, W.1    Skopek, T.R.2
  • 9
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    • Spreadsheet software for thermodynamic melting point prediction of oligonucleotide hybridization with and without mismatches
    • Schütz E, Von Ahsen N. Spreadsheet software for thermodynamic melting point prediction of oligonucleotide hybridization with and without mismatches. Biotechniques 1999;27:1218-22.
    • (1999) Biotechniques , vol.27 , pp. 1218-1222
    • Schütz, E.1    Von Ahsen, N.2
  • 10
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    • Homogeneous multiplex genotyping of hemochromatosis mutations with fluorescent hybridization probes
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    • Bernard, P.S.1    Ajioka, R.S.2    Kushner, J.P.3    Wittwer, C.T.4
  • 11
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    • Application of a thermodynamic nearest-neighbor model to estimate nucleic acid stability and optimize probe design: Prediction of melting points of multiple mutations of apolipoprotein B-3500 and factor V with a hybridization probe genotyping assay on the LightCycler
    • Von Ahsen N, Oellerich M, Armstrong VW, Schütz E. Application of a thermodynamic nearest-neighbor model to estimate nucleic acid stability and optimize probe design: prediction of melting points of multiple mutations of apolipoprotein B-3500 and factor V with a hybridization probe genotyping assay on the LightCycler. Clin Chem 1999;45:2094-101.
    • (1999) Clin Chem , vol.45 , pp. 2094-2101
    • Von Ahsen, N.1    Oellerich, M.2    Armstrong, V.W.3    Schütz, E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.