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Journal Abstract Search

175 related items for PubMed ID: 8957181

  • 1. Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8.
    Horn D, Robinson PN, Böddrich A, Buske A, Tinschert S, Nürnberg P.
    Electrophoresis; 1996 Oct; 17(10):1559-63. PubMed ID: 8957181
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  • 2. Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.
    Toliat MR, Erdogan F, Gewies A, Fahsold R, Buske A, Tinschert S, Nürnberg P.
    Electrophoresis; 2000 Feb; 21(3):541-4. PubMed ID: 10726756
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  • 3. NF1 gene mutations in Japanese with neurofibromatosis 1 (NF1).
    Hatta N, Horiuchi T, Watanabe I, Kobayashi Y, Shirakata Y, Ohtsuka H, Minami T, Ueda K, Kokoroishi T, Fujita S.
    Biochem Biophys Res Commun; 1995 Jul 17; 212(2):697-704. PubMed ID: 7542886
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  • 5. Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.
    Wimmer K, Roca X, Beiglböck H, Callens T, Etzler J, Rao AR, Krainer AR, Fonatsch C, Messiaen L.
    Hum Mutat; 2007 Jun 17; 28(6):599-612. PubMed ID: 17311297
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  • 7. 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 17; 88(1):76-81. PubMed ID: 2056132
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  • 9. A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition.
    Fang LJ, Simard MJ, Vidaud D, Assouline B, Lemieux B, Vidaud M, Chabot B, Thirion JP.
    J Mol Biol; 2001 Apr 13; 307(5):1261-70. PubMed ID: 11292340
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  • 10. Identification of a novel exonic mutation at -13 from 5' splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase deficiency.
    Fukao T, Yamaguchi S, Wakazono A, Orii T, Hoganson G, Hashimoto T.
    J Clin Invest; 1994 Mar 13; 93(3):1035-41. PubMed ID: 7907600
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  • 18. A directed search for mutations in hemophilia A using restriction enzyme analysis and denaturing gradient gel electrophoresis. A study of seven exons in the factor VIII gene of 170 cases.
    Lavergne JM, Bahnak BR, Vidaud M, Laurian Y, Meyer D.
    Nouv Rev Fr Hematol (1978); 1992 Mar 13; 34(1):85-91. PubMed ID: 1523102
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  • 19. Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young.
    Bulman MP, Harries LW, Hansen T, Shepherd M, Kelly WF, Hattersley AT, Ellard S.
    Diabetologia; 2002 Oct 13; 45(10):1463-7. PubMed ID: 12378390
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  • 20. A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.
    Williams CJ, Ganguly A, Considine E, McCarron S, Prockop DJ, Walsh-Vockley C, Michels VV.
    Am J Med Genet; 1996 Jun 14; 63(3):461-7. PubMed ID: 8737653
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