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European Journal of Human Genetics
Volumn 18, Issue 6, 2010, Pages 737-738
RNA splicing meets genetic testing: Detection and interpretation of splicing defects in genetic diseases
Author keywords

[No Author keywords available]
Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; DNA; MESSENGER RNA; SURVIVAL MOTOR NEURON PROTEIN 2;
EID: 77952668952     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.18     Document Type: Conference Paper
Times cited : (8)
References (8)
  • 1
    • 68249121529 scopus 로고    scopus 로고
    • Missed threads the impact of pre-mRNA splicing defects on clinical practice
    • Baralle D, Lucassen A, Buratti E: Missed threads. The impact of pre-mRNA splicing defects on clinical practice. EMBO Rep 2009; 10: 810-816.
    • (2009) EMBO Rep , vol.10 , pp. 810-816
    • Baralle, D.1    Lucassen, A.2    Buratti, E.3
  • 3
    • 55249116242 scopus 로고    scopus 로고
    • Rapid generation of splicing reporters with pSpliceExpress
    • Kishore S, Khanna A, Stamm S: Rapid generation of splicing reporters with pSpliceExpress. Gene 2008; 427: 104-110.
    • (2008) Gene , vol.427 , pp. 104-110
    • Kishore, S.1    Khanna, A.2    Stamm, S.3
  • 4
    • 45249091505 scopus 로고    scopus 로고
    • Substances that can change alternative splice-site selection
    • DOI 10.1042/BST0360483
    • Sumanasekera C, Watt DS, Stamm S: Substances that can change alternative splice-site selection. Biochem Soc Trans 2008; 36: 483-490. (Pubitemid 351839360)
    • (2008) Biochemical Society Transactions , vol.36 , Issue.3 , pp. 483-490
    • Sumanasekera, C.1    Watt, D.S.2    Stamm, S.3
  • 5
    • 74449086309 scopus 로고    scopus 로고
    • Progress in therapeutic antisense applications for neuromuscular disorders
    • Aartsma-Rus A, van Ommen GJ: Progress in therapeutic antisense applications for neuromuscular disorders. Eur J Hum Genet 2010; 18: 146-153.
    • (2010) Eur J Hum Genet , vol.18 , pp. 146-153
    • Aartsma-Rus, A.1    Van Ommen, G.J.2
  • 6
    • 74049115526 scopus 로고    scopus 로고
    • A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy
    • Vezain M, Saugier-Veber P, Goina E et al: A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy. Hum Mutat 2010; 31: E1110-E1125.
    • (2010) Hum Mutat , vol.31
    • Vezain, M.1    Saugier-Veber, P.2    Goina, E.3
  • 7
    • 55549147204 scopus 로고    scopus 로고
    • Classification of rare missense substitutions, using risk surfaces, with genetic-and molecular-epidemiology applications
    • Tavtigian SV, Byrnes GB, Goldgar DE, Thomas A: Classification of rare missense substitutions, using risk surfaces, with genetic-and molecular-epidemiology applications. Hum Mutat 2008; 29: 1342-1354.
    • (2008) Hum Mutat , vol.29 , pp. 1342-1354
    • Tavtigian, S.V.1    Byrnes, G.B.2    Goldgar, D.E.3    Thomas, A.4
  • 8
    • 55549124905 scopus 로고    scopus 로고
    • Prediction and assessment of splicing alterations: Implications for clinical testing
    • Spurdle AB, Couch FJ, Hogervorst FB, Radice P, Sinilnikova OM: Prediction and assessment of splicing alterations: implications for clinical testing. Hum Mutat 2008; 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

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.