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Volumn 867, Issue , 2012, Pages 37-47

Minigenes to confirm exon skipping mutations

Author keywords

Exon skipping; Exon trapping vector; Minigenes; Splicing mutations

Indexed keywords

RNA;

EID: 84859853681     PISSN: 10643745     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-61779-767-5_3     Document Type: Article
Times cited : (31)

References (14)
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  • 2
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  • 3
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    • Alternative splicing: Role of pseudoexons in human disease and potential therapeutic strategies
    • Dhir A, Buratti E (2010) Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies. FEBS J 277: 841-855
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    • Dhir, A.1    Buratti, E.2
  • 4
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    • Splicing in action: Assessing disease causing sequence changes
    • DOI 10.1136/jmg.2004.029538
    • Baralle D, Baralle M (2005) Splicing in action: assessing disease causing sequence changes. J Med Genet 42:737-748 (Pubitemid 41475248)
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    • Baralle, D.1    Baralle, M.2
  • 5
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    • Prediction and assessment of splicing alterations: Implications for clinical testing
    • Spurdle AB, Couch FJ, Hogervorst FB, Radice P, Sinilnikova OM (2008) Prediction and assessment of splicing alterations: implications for clinical testing. Hum Mutat 29:1304-1313
    • (2008) Hum Mutat , vol.29 , pp. 1304-1313
    • Spurdle, A.B.1    Couch, F.J.2    Hogervorst, F.B.3    Radice, P.4    Sinilnikova, O.M.5
  • 6
    • 68249121529 scopus 로고    scopus 로고
    • Missed threads. The impact of pre-mRNA splicing defects on clinical practice
    • Baralle D, Lucassen A, Buratti E (2009) Missed threads. The impact of pre-mRNA splicing defects on clinical practice. EMBO Rep 10:810-816
    • (2009) EMBO Rep , vol.10 , pp. 810-816
    • Baralle, D.1    Lucassen, A.2    Buratti, E.3
  • 10
    • 66749140994 scopus 로고    scopus 로고
    • Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia
    • Vega AI, Perez-Cerda C, Desviat LR, Matthijs G, Ugarte M, Perez B (2009) Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. Hum Mutat 30:795-803
    • (2009) Hum Mutat , vol.30 , pp. 795-803
    • Vega, A.I.1    Perez-Cerda, C.2    Desviat, L.R.3    Matthijs, G.4    Ugarte, M.5    Perez, B.6
  • 11
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    • Splicing mutation associated with Rett syndrome and an experimental approach for genetic diagnosis
    • Abuhatzira L, Makedonski K, Galil YP, Gak E, Zeev BB, Razin A, Shemer R (2005) Splicing mutation associated with Rett syndrome and an experimental approach for genetic diagnosis. Hum Genet 118:91-98
    • (2005) Hum Genet , vol.118 , pp. 91-98
    • Abuhatzira, L.1    Makedonski, K.2    Galil, Y.P.3    Gak, E.4    Zeev, B.B.5    Razin, A.6    Shemer, R.7
  • 12
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    • Propionic and methylmalonic acidemia: Antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA
    • DOI 10.1086/522376
    • Rincon A, Aguado C, Desviat LR, Sanchez-Alcudia R, Ugarte M, Perez B (2007) Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA. Am J Hum Genet 81:1262-1270 (Pubitemid 350211454)
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  • 13
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    • NF1 mRNA biogenesis: Effect of the genomic milieu in splicing regulation of the NF1 exon 37 region
    • DOI 10.1016/j.febslet.2006.07.018, PII S0014579306008489
    • Baralle M, Skoko N, Knezevich A, De Conti L, Motti D, Bhuvanagiri M, Baralle D, Buratti E, Baralle FE (2006) NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region. FEBS Lett 580:4449-4456 (Pubitemid 44118266)
    • (2006) FEBS Letters , vol.580 , Issue.18 , pp. 4449-4456
    • Baralle, M.1    Skoko, N.2    Knezevich, A.3    De Conti, L.4    Motti, D.5    Bhuvanagiri, M.6    Baralle, D.7    Buratti, E.8    Baralle, F.E.9
  • 14
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    • Defective splicing, disease and therapy: Searching for master checkpoints in exon definition
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.