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Journal Abstract Search

377 related items for PubMed ID: 8254026

  • 1. 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
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  • 2. Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.
    Aslanidis C, Ries S, Fehringer P, Büchler C, Klima H, Schmitz G.
    Genomics; 1996 Apr 01; 33(1):85-93. PubMed ID: 8617513
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  • 3. A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease.
    Redonnet-Vernhet I, Chatelut M, Salvayre R, Levade T.
    Hum Mutat; 1998 Apr 01; 11(4):335-6. PubMed ID: 9554751
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  • 4. Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease.
    Du H, Sheriff S, Bezerra J, Leonova T, Grabowski GA.
    Mol Genet Metab; 1998 Jun 01; 64(2):126-34. PubMed ID: 9705237
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  • 12. A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease.
    Hooper AJ, Tran HA, Formby MR, Burnett JR.
    Clin Chim Acta; 2008 Dec 01; 398(1-2):152-4. PubMed ID: 18775687
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  • 13. Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase.
    Redonnet-Vernhet I, Chatelut M, Basile JP, Salvayre R, Levade T.
    Biochem Mol Med; 1997 Oct 01; 62(1):42-9. PubMed ID: 9367797
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  • 16. 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
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  • 18. Genomic organization of the human lysosomal acid lipase gene (LIPA).
    Aslanidis C, Klima H, Lackner KJ, Schmitz G.
    Genomics; 1994 Mar 15; 20(2):329-31. PubMed ID: 8020990
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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 Mar 15; 5(1):50-8. PubMed ID: 9156321
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  • 20. A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III.
    Okubo M, Aoyama Y, Murase T.
    Biochem Biophys Res Commun; 1996 Jul 16; 224(2):493-9. PubMed ID: 8702417
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