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Journal Abstract Search

241 related items for PubMed ID: 12634951

  • 1. A novel splicing acceptor mutation of the factor VIII gene producing skipping of exon 25.
    Gau JP, Hsu HC, Chau WK, Ho CH.
    Ann Hematol; 2003 Mar; 82(3):175-7. PubMed ID: 12634951
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  • 2. Nucleotide changes around the splicing acceptor of intron 24 in the factor VIII gene and its impact on splicing.
    Gau JP, Chen CC, Hsu HC, Ho CH, Chau WK, You JY, Yu YB.
    Blood Coagul Fibrinolysis; 2006 Jan; 17(1):53-6. PubMed ID: 16607080
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  • 3. Characterization of hprt splicing mutations induced by the ultimate carcinogenic metabolite of benzo[a]pyrene in Chinese hamster V-79 cells.
    Hennig EE, Conney AH, Wei SJ.
    Cancer Res; 1995 Apr 01; 55(7):1550-8. PubMed ID: 7882364
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  • 4. Exon skipping partially restores factor VIII coagulant activity in patients with mild hemophilia A with exon 13 duplication.
    Acquila M, Pasino M, Lanza T, Molinari AC, Rosano C, Bicocchi MP.
    Haematologica; 2005 Jul 01; 90(7):997-9. PubMed ID: 15996947
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  • 5. Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation. Mutations in brief no. 245. Online.
    Möller-Morlang K, Tavassoli K, Eigel A, Pollmann H, Horst J.
    Hum Mutat; 1999 Jul 01; 13(6):504. PubMed ID: 10408784
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  • 12. The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues.
    Pepe CM, Saraco NI, Baquedano MS, Guercio G, Vaiani E, Marino R, Pandey AV, Flück CE, Rivarola MA, Belgorosky A.
    Clin Endocrinol (Oxf); 2007 Nov 01; 67(5):698-705. PubMed ID: 17608756
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  • 14. 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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  • 15. A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene.
    Nakamura K, Fukao T, Perez-Cerda C, Luque C, Song XQ, Naiki Y, Kohno Y, Ugarte M, Kondo N.
    Mol Genet Metab; 2001 Feb 01; 72(2):115-21. PubMed ID: 11161837
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  • 16. Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions.
    Jayandharan G, Shaji RV, Baidya S, Nair SC, Chandy M, Srivastava A.
    Haemophilia; 2005 Sep 01; 11(5):481-91. PubMed ID: 16128892
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  • 17. Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation.
    Garbarz M, Tse WT, Gallagher PG, Picat C, Lecomte MC, Galibert F, Dhermy D, Forget BG.
    J Clin Invest; 1991 Jul 01; 88(1):76-81. PubMed ID: 2056132
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  • 18. A novel splice-acceptor site mutation (IVS13-2A>T) of polycystic kidney disease 1 (PKD1) gene resulting in an RNA processing defect with a 74-nucleotide deletion in exon 14 of the mRNA transcript.
    Thongnoppakhun A, Rungroj N, Wilairat P, Vareesangthip K, Sirinavin C, Yenchitsomanus PT.
    Hum Mutat; 2000 Jan 01; 15(1):115. PubMed ID: 10612835
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  • 19. 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 Jan 01; 5(1):50-8. PubMed ID: 9156321
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