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Volumn 46, Issue 1, 2000, Pages 119-122

Rapid detection of deletion mutations in inherited metabolic diseases by melting curve analysis with lightcycler

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMOYL PHOSPHATE SYNTHASE; DNA; DYE; NUCLEOTIDE; RNA; UREA;

EID: 0033961406     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/46.1.119     Document Type: Article
Times cited : (19)

References (7)
  • 1
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    • 1. Lay MJ, Wittwer CT. Real-time fluorescence genotyping of factor V Leiden during rapid-cycle PCR. Clin Chem 1997;43:2262-7.
    • (1997) Clin Chem , vol.43 , pp. 2262-2267
    • Lay, M.J.1    Wittwer, C.T.2
  • 2
    • 0031984605 scopus 로고    scopus 로고
    • Integrated amplification and detection of the C677T point mutation in the methylenetetrahydrofolate reductase gene by fluorescence resonance energy transfer and probe melting curves
    • 2. Bernard PS, Lay MJ, Wittwer CT. Integrated amplification and detection of the C677T point mutation in the methylenetetrahydrofolate reductase gene by fluorescence resonance energy transfer and probe melting curves. Anal Biochem 1998;255:101-7.
    • (1998) Anal Biochem , vol.255 , pp. 101-107
    • Bernard, P.S.1    Lay, M.J.2    Wittwer, C.T.3
  • 3
    • 0032126175 scopus 로고
    • Detection of the hereditary hemochromatosis gene mutation by real-time fluorescence polymerase chain reaction and peptide nucleic acid clamping
    • 3. Kyger EM, Krevolin MD, Powell MJ. Detection of the hereditary hemochromatosis gene mutation by real-time fluorescence polymerase chain reaction and peptide nucleic acid clamping. Anal Biochem 1988;260:142-8.
    • (1988) Anal Biochem , vol.260 , pp. 142-148
    • Kyger, E.M.1    Krevolin, M.D.2    Powell, M.J.3
  • 4
    • 0032921340 scopus 로고    scopus 로고
    • Rapid detection of prothrombotic mutations of prothrombin (G20210A), factor V (G1691A), and methylenetetrahydrofolate reductase (C677T) by real-time fluorescence PCR with the lightcycler
    • 4. von Ahsen N, Schutz E, Armstrong VW, Oellerich M. Rapid detection of prothrombotic mutations of prothrombin (G20210A), factor V (G1691A), and methylenetetrahydrofolate reductase (C677T) by real-time fluorescence PCR with the LightCycler. Clin Chem 1999;45:694-6.
    • (1999) Clin Chem , vol.45 , pp. 694-696
    • Von Ahsen, N.1    Schutz, E.2    Armstrong, V.W.3    Oellerich, M.4
  • 5
    • 0031965105 scopus 로고    scopus 로고
    • A novel mutation (E358K) in the α-galactosidase A gene detected in a Japanese family with Fabry disease
    • 5. Miyazaki T, Kajita M, Ohmori S, Mizutani N, Niwa T, Murata Y, et al. A novel mutation (E358K) in the α-galactosidase A gene detected in a Japanese family with Fabry disease. Hum Mutat 1998;Suppl 1:S139-40.
    • (1998) Hum Mutat , Issue.SUPPL. 1
    • Miyazaki, T.1    Kajita, M.2    Ohmori, S.3    Mizutani, N.4    Niwa, T.5    Murata, Y.6
  • 6
    • 0029958105 scopus 로고    scopus 로고
    • Fuorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the α-galactosidase A gene and detection of carriers in fabry disease
    • 6. Germain D, Biasotto M, Tosi M, Meo T, Kahn A, Poenaru L. Fuorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the α-galactosidase A gene and detection of carriers in Fabry disease. Hum Genet 1996;98:719-26.
    • (1996) Hum Genet , vol.98 , pp. 719-726
    • Germain, D.1    Biasotto, M.2    Tosi, M.3    Meo, T.4    Kahn, A.5    Poenaru, L.6
  • 7
    • 0027253962 scopus 로고
    • Carbamyl phosphate synthase I deficiency. One base substitution in an exon of the CPSI gene causes a 9-basepair deletion due to aberrant splicing
    • 7. Hoshide R, Matsuura T, Haraguchi Y, Endo F, Yoshinaga M, Matsuda I. Carbamyl phosphate synthase I deficiency. One base substitution in an exon of the CPSI gene causes a 9-basepair deletion due to aberrant splicing. J Clin Investig 1993;91:1884-7.
    • (1993) J Clin Investig , vol.91 , pp. 1884-1887
    • Hoshide, R.1    Matsuura, T.2    Haraguchi, Y.3    Endo, F.4    Yoshinaga, M.5    Matsuda, I.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.