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Volumn 35, Issue 2, 2007, Pages 135-140

Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene

Author keywords

Dosage; Dystrophin; MLPA; Point mutations

Indexed keywords

BIOASSAY; DISEASES; DNA SEQUENCES; GENES; POLYMORPHISM;

EID: 34247386718     PISSN: 10736085     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02686108     Document Type: Article
Times cited : (24)

References (7)
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    • Schouten, J. P., McElgunn, C. J., Waaijer, R., Zwijnenburg, D., Diepvens, F., and Pals, G. (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nuc. Acid Res. 30, e57.
    • (2002) Nuc. Acid Res , vol.30
    • Schouten, J.P.1    McElgunn, C.J.2    Waaijer, R.3    Zwijnenburg, D.4    Diepvens, F.5    Pals, G.6
  • 2
    • 5044227573 scopus 로고    scopus 로고
    • Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification
    • Bunyan, D. J., Eccles, D. M., Sillibourne, J., et al. (2004) Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification. Br. J. Cancer 91(6), 1155-1159.
    • (2004) Br. J. Cancer , vol.91 , Issue.6 , pp. 1155-1159
    • Bunyan, D.J.1    Eccles, D.M.2    Sillibourne, J.3
  • 3
    • 0023614188 scopus 로고
    • Dystrophin: The protein product of the Duchenne muscular dystrophy locus
    • Hoffman, E. P., Brown, R. H., and Kunkel, L. M. (1987) Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51, 919-928.
    • (1987) Cell , vol.51 , pp. 919-928
    • Hoffman, E.P.1    Brown, R.H.2    Kunkel, L.M.3
  • 4
    • 0025998134 scopus 로고
    • Population frequencies of inherited neuromuscular diseases - a world survey
    • Emery, A. E. H. (1991) Population frequencies of inherited neuromuscular diseases - a world survey. Neuromuscular Disord. 1, 19-29.
    • (1991) Neuromuscular Disord , vol.1 , pp. 19-29
    • Emery, A.E.H.1
  • 5
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    • Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
    • Beggs, A. H., Koenig, M., Boyce, F. M., and Kunkel, L. M. (1990) Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum. Genet. 86, 45-48.
    • (1990) Hum. Genet , vol.86 , pp. 45-48
    • Beggs, A.H.1    Koenig, M.2    Boyce, F.M.3    Kunkel, L.M.4
  • 6
    • 0025774523 scopus 로고
    • A convenient multiplex PCR system for the detection of dystrophin gene deletions: A comparative analysis with cDNA hybridization shows mistypings by both methods
    • Abbs, S., Yau, S. C., Clark, S., Mathew, C. G., and Bobrow, M. (1991) A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridization shows mistypings by both methods. J. Med. Genet. 28, 304-311.
    • (1991) J. Med. Genet , vol.28 , pp. 304-311
    • Abbs, S.1    Yau, S.C.2    Clark, S.3    Mathew, C.G.4    Bobrow, M.5
  • 7
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    • Deletion and duplication screening in the DMD gene using MLPA
    • Lalic, T., Vossen, R. H., Coffa, J., et al. (2005) Deletion and duplication screening in the DMD gene using MLPA. Eur. J. Hum. Genet 13(11), 1231-1234.
    • (2005) Eur. J. Hum. Genet , vol.13 , Issue.11 , pp. 1231-1234
    • Lalic, T.1    Vossen, R.H.2    Coffa, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.