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Journal Abstract Search

163 related items for PubMed ID: 8615693

  • 1. Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant.
    Ookawara T, Davé V, Willems P, Martin JJ, de Barsy T, Matthys E, Yoshida A.
    Arch Biochem Biophys; 1996 Mar 01; 327(1):35-40. PubMed ID: 8615693
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  • 2. A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina).
    Tsujino S, Tonin P, Shanske S, Nohria V, Boustany RM, Lewis D, Chen YT, DiMauro S.
    Ann Neurol; 1994 Mar 01; 35(3):349-53. PubMed ID: 8122886
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  • 3. The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms.
    Lee PL, Gelbart T, West C, Halloran C, Beutler E.
    Blood Cells Mol Dis; 1998 Jun 01; 24(2):199-215. PubMed ID: 9642100
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  • 9. Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy.
    Yagi M, Takeshima Y, Wada H, Nakamura H, Matsuo M.
    Hum Genet; 2003 Feb 01; 112(2):164-70. PubMed ID: 12522557
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  • 10. Altered mRNA expression due to insertion or substitution of thymine at position +3 of two splice-donor sites in the androgen receptor gene.
    Trifiro MA, Lumbroso R, Beitel LK, Vasiliou DM, Bouchard J, Deal C, Van Vliet G, Pinsky L.
    Eur J Hum Genet; 1997 Feb 01; 5(1):50-8. PubMed ID: 9156321
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  • 11. A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro.
    Thi Tran HT, Takeshima Y, Surono A, Yagi M, Wada H, Matsuo M.
    Mol Genet Metab; 2005 Jul 01; 85(3):213-9. PubMed ID: 15979033
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  • 13. T cell signaling abnormalities in systemic lupus erythematosus are associated with increased mutations/polymorphisms and splice variants of T cell receptor zeta chain messenger RNA.
    Nambiar MP, Enyedy EJ, Warke VG, Krishnan S, Dennis G, Wong HK, Kammer GM, Tsokos GC.
    Arthritis Rheum; 2001 Jun 01; 44(6):1336-50. PubMed ID: 11407693
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  • 14. Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing.
    Shirakawa K, Takahashi Y, Miyajima H.
    Neurology; 2006 Mar 28; 66(6):925-7. PubMed ID: 16567715
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  • 18. A novel G-to-A mutation in the intron-N of the protein S gene leading to abnormal RNA splicing in a patient with protein S deficiency.
    D'Andrea G, Di Perna P, Brancaccio V, Faioni EM, Castaman G, Cibelli G, Di Minno G, Margaglione M, Protein S Italian Team.
    Haematologica; 2003 Apr 28; 88(4):459-64. PubMed ID: 12681974
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