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Journal Abstract Search

141 related items for PubMed ID: 8486760

  • 1. Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing.
    Hoshide R, Matsuura T, Haraguchi Y, Endo F, Yoshinaga M, Matsuda I.
    J Clin Invest; 1993 May; 91(5):1884-7. PubMed ID: 8486760
    [Abstract] [Full Text] [Related]

  • 2. Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene disrupts the consensus sequence in this region.
    Mitsubuchi H, Nobukuni Y, Akaboshi I, Indo Y, Endo F, Matsuda I.
    J Clin Invest; 1991 Apr; 87(4):1207-11. PubMed ID: 2010537
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  • 4. A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.
    Klima H, Ullrich K, Aslanidis C, Fehringer P, Lackner KJ, Schmitz G.
    J Clin Invest; 1993 Dec; 92(6):2713-8. PubMed ID: 8254026
    [Abstract] [Full Text] [Related]

  • 5. A new variant of muscle phosphofructokinase deficiency in a Japanese case with abnormal RNA splicing.
    Hamaguchi T, Nakajima H, Noguchi T, Ono A, Kono N, Tarui S, Kuwajima M, Matsuzawa Y.
    Biochem Biophys Res Commun; 1994 Jul 15; 202(1):444-9. PubMed ID: 7518679
    [Abstract] [Full Text] [Related]

  • 6. Immunochemical analysis of carbamyl phosphate synthetase I and ornithine transcarbamylase deficient livers: elevated N-acetylglutamate level in a liver lacking carbamyl phosphate synthetase protein.
    Zhang W, Holzknecht RA, Butkowski RJ, Tuchman M.
    Clin Invest Med; 1990 Aug 15; 13(4):183-8. PubMed ID: 2208834
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Molecular defect in siblings with prolidase deficiency and absence or presence of clinical symptoms. A 0.8-kb deletion with breakpoints at the short, direct repeat in the PEPD gene and synthesis of abnormal messenger RNA and inactive polypeptide.
    Tanoue A, Endo F, Akaboshi I, Oono T, Arata J, Matsuda I.
    J Clin Invest; 1991 Apr 01; 87(4):1171-6. PubMed ID: 2010534
    [Abstract] [Full Text] [Related]

  • 9. 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 Apr 01; 5(1):50-8. PubMed ID: 9156321
    [Abstract] [Full Text] [Related]

  • 10. A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22(0)) leading to the activation of a cryptic splice site in intron 4.
    Stasia MJ, Bordigoni P, Martel C, Morel F.
    Hum Genet; 2002 May 01; 110(5):444-50. PubMed ID: 12073015
    [Abstract] [Full Text] [Related]

  • 11. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
    Tsuruta M, Mitsubuchi H, Mardy S, Miura Y, Hayashida Y, Kinugasa A, Ishitsu T, Matsuda I, Indo Y.
    J Hum Genet; 1998 May 01; 43(2):91-100. PubMed ID: 9621512
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.
    Finckh U, Kohlschütter A, Schäfer H, Sperhake K, Colombo JP, Gal A.
    Hum Mutat; 1998 Jan 01; 12(3):206-11. PubMed ID: 9711878
    [Abstract] [Full Text] [Related]

  • 15. Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2).
    van Beurden EA, de Graaf M, Wendel U, Gitzelmann R, Berger R, van den Berg IE.
    Biochem Biophys Res Commun; 1997 Jul 30; 236(3):544-8. PubMed ID: 9245685
    [Abstract] [Full Text] [Related]

  • 16. Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5' end of exon III.
    Kamura T, Okamura T, Murakawa M, Tsuda H, Teshima T, Shibuya T, Harada M, Niho Y.
    J Clin Invest; 1992 Aug 30; 90(2):315-9. PubMed ID: 1644910
    [Abstract] [Full Text] [Related]

  • 17. A novel RNA splicing mutation in Japanese patients with Wilson disease.
    Shimizu N, Kawase C, Nakazono H, Hemmi H, Shimatake H, Aoki T.
    Biochem Biophys Res Commun; 1995 Dec 05; 217(1):16-20. PubMed ID: 8526905
    [Abstract] [Full Text] [Related]

  • 18. 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 05; 82(3):175-7. PubMed ID: 12634951
    [Abstract] [Full Text] [Related]

  • 19. 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 05; 17(10):1559-63. PubMed ID: 8957181
    [Abstract] [Full Text] [Related]

  • 20. A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency.
    Fukao T, Sakurai S, Rolland MO, Zabot MT, Schulze A, Yamada K, Kondo N.
    Mol Genet Metab; 2006 Nov 05; 89(3):280-2. PubMed ID: 16765626
    [Abstract] [Full Text] [Related]

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