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Volumn 61, Issue 6, 2016, Pages 483-489

Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: Validation analysis of DMD mutations (Journal of Human Genetics (2016) 61 (483-489) DOI: 10.1038/jhg.2016.7);Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: Validation analysis of DMD mutations

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN;

EID: 84976553960     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2017.54     Document Type: Erratum
Times cited : (89)

References (16)
  • 1
    • 0025998134 scopus 로고
    • Population frequencies of inherited neuromuscular disease-a world survey
    • Emery, A. E. Population frequencies of inherited neuromuscular disease-a world survey. Neuromuscl. Disord. 1, 19-29 (1991).
    • (1991) Neuromuscl. Disord. , vol.1 , pp. 19-29
    • Emery, A.E.1
  • 2
    • 72149108443 scopus 로고    scopus 로고
    • Diagnosis and management of Duchenne muscular dystrophy, part1: Diagnosis, and pharmacological and psychosocial management
    • Bushby, K., Finkel, R., Brinkrant, D. J., Case, L. E., Clemens, P. R., Cripe, L. et al. Diagnosis and management of Duchenne muscular dystrophy, part1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 9, 77-93 (2010).
    • (2010) Lancet Neurol. , vol.9 , pp. 77-93
    • Bushby, K.1    Finkel, R.2    Brinkrant, D.J.3    Case, L.E.4    Clemens, P.R.5    Cripe, L.6
  • 3
    • 0027470203 scopus 로고
    • The structural and functional diversity of dystrophin
    • Ahn, A. H. & Kunkel, L. M. The structural and functional diversity of dystrophin. Nat. Genet. 3, 283-291 (1993).
    • (1993) Nat. Genet. , vol.3 , pp. 283-291
    • Ahn, A.H.1    Kunkel, L.M.2
  • 4
    • 77954158696 scopus 로고    scopus 로고
    • Mutation spectrum of dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
    • Takeshima, Y., Yagi, M., Okizuka, Y., Awano, H., Zhang, Z., Yamauchi, Y. et al. Mutation spectrum of dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. J. Hum. Genet. 55, 379-388 (2010).
    • (2010) J. Hum. Genet. , vol.55 , pp. 379-388
    • Takeshima, Y.1    Yagi, M.2    Okizuka, Y.3    Awano, H.4    Zhang, Z.5    Yamauchi, Y.6
  • 5
    • 80054720841 scopus 로고    scopus 로고
    • Genetype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up
    • Magri, F., Govoni, A., Angelo, M. G., Del Bo, R., Gbezzi, S., Sandra, G. et al. Genetype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up. J. Neurol. 258, 1610-1623 (2011).
    • (2011) J. Neurol. , vol.258 , pp. 1610-1623
    • Magri, F.1    Govoni, A.2    Angelo, M.G.3    Del Bo, R.4    Gbezzi, S.5    Sandra, G.6
  • 8
    • 71749114728 scopus 로고    scopus 로고
    • Mutational spectrum of DMD mutations in dystrophinopathy patients: Application of modern diagnostic techniques to a large cohort
    • Flanigan, K. M., Dunn, D. M., Niederhausem, A. V., Soltanzadeh, P., Gappmarie, E., Howard, M. T. et al. Mutational spectrum of dmd mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum. Mutat. 30, 1657-1666 (2009).
    • (2009) Hum. Mutat. , vol.30 , pp. 1657-1666
    • Flanigan, K.M.1    Dunn, D.M.2    Niederhausem, A.V.3    Soltanzadeh, P.4    Gappmarie, E.5    Howard, M.T.6
  • 9
    • 77952938084 scopus 로고    scopus 로고
    • Gentamicin-Induced readthrough of stop codons in duchenne muscular dystrophy
    • MaliK, V., Rodino-Klapac, L. R., Viollet, L., Wall, C., King, W., Al-Dahhak, R. et al. Gentamicin-Induced readthrough of stop codons in duchenne muscular dystrophy. Ann. Neurol. 67, 771-780 (2010).
    • (2010) Ann. Neurol. , vol.67 , pp. 771-780
    • MaliK, V.1    Rodino-Klapac, L.R.2    Viollet, L.3    Wall, C.4    King, W.5    Al-Dahhak, R.6
  • 11
    • 84892581676 scopus 로고    scopus 로고
    • Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation duchenne muscular dystrophy
    • Finkel, R. S., Flanigan, K. M., Wong, B., Bonnemann, C., Sampson, K., Sweeney, H. L. et al. Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation duchenne muscular dystrophy. PLoS ONE 8, e81302 (2013).
    • (2013) PLoS ONE , vol.8 , pp. e81302
    • Finkel, R.S.1    Flanigan, K.M.2    Wong, B.3    Bonnemann, C.4    Sampson, K.5    Sweeney, H.L.6
  • 12
    • 84947569046 scopus 로고    scopus 로고
    • Duchenne muscular dystrophy: From diagnosis to therapy
    • Falzarano, M. S., Scotton, C., Passarelli, C. &, Ferlini, A. Duchenne muscular dystrophy: from diagnosis to therapy. Molecules 28, 18168-18184 (2015).
    • (2015) Molecules , vol.28 , pp. 18168-18184
    • Falzarano, M.S.1    Scotton, C.2    Passarelli, C.3    Ferlini, A.4
  • 13
    • 81055157739 scopus 로고    scopus 로고
    • Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: Comprehensive mutational search in a signal platform
    • Lim, B. C., Lee, S., Shin, J. Y., Kim, J. I., Hwang, H., Kim, K. J. et al. Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a signal platform. J. Med. Genet. 48, 731-736 (2011).
    • (2011) J. Med. Genet. , vol.48 , pp. 731-736
    • Lim, B.C.1    Lee, S.2    Shin, J.Y.3    Kim, J.I.4    Hwang, H.5    Kim, K.J.6
  • 14
    • 84890795613 scopus 로고    scopus 로고
    • Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: A multi-population diagnostic study
    • Wei, X., Dai, Y., Yu, P., Qu, N., Lan, Z., Hong, X. et al. Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study. Eur. J. Hum. Genet. 22, 110-118 (2014).
    • (2014) Eur. J. Hum. Genet. , vol.22 , pp. 110-118
    • Wei, X.1    Dai, Y.2    Yu, P.3    Qu, N.4    Lan, Z.5    Hong, X.6
  • 15
    • 77951770756 scopus 로고    scopus 로고
    • BEDTools: A flexible suite of utilities for comparing genomic features
    • Quinlan, A. R. & Hall, I. M. BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics 26, 841-842 (2010).
    • (2010) Bioinformatics , vol.26 , pp. 841-842
    • Quinlan, A.R.1    Hall, I.M.2
  • 16
    • 15444370412 scopus 로고    scopus 로고
    • MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: Potential and pitfall
    • Janssen, B., Hartmann, C., Scholz, V., Jauch, A. & Zschocke, J. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfall. Neurogenetics 6, 29-35 (2005).
    • (2005) Neurogenetics , vol.6 , pp. 29-35
    • Janssen, B.1    Hartmann, C.2    Scholz, V.3    Jauch, A.4    Zschocke, J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.