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Journal Abstract Search

157 related items for PubMed ID: 2203258

  • 1. Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cells.
    Martiniuk F, Bodkin M, Tzall S, Hirschhorn R.
    Am J Hum Genet; 1990 Sep; 47(3):440-5. PubMed ID: 2203258
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  • 2. Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.
    Martiniuk F, Mehler M, Bodkin M, Tzall S, Hirschhorn K, Zhong N, Hirschhorn R.
    DNA Cell Biol; 1991 Nov; 10(9):681-7. PubMed ID: 1684505
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  • 3. Identification of the promoter region and gene expression for human acid alpha glucosidase.
    Tzall S, Martiniuk F.
    Biochem Biophys Res Commun; 1991 May 15; 176(3):1509-15. PubMed ID: 1645546
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  • 8. Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences.
    Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R.
    DNA Cell Biol; 1990 Mar 15; 9(2):85-94. PubMed ID: 2111708
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  • 9. Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.
    Zhong N, Martiniuk F, Tzall S, Hirschhorn R.
    Am J Hum Genet; 1991 Sep 15; 49(3):635-45. PubMed ID: 1652892
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  • 10. Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
    McCready ME, Carson NL, Chakraborty P, Clarke JT, Callahan JW, Skomorowski MA, Chan AK, Bamforth F, Casey R, Rupar CA, Geraghty MT.
    Mol Genet Metab; 2007 Dec 15; 92(4):325-35. PubMed ID: 17723315
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  • 11. Adenovirus-mediated transfer of the acid alpha-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation.
    Nicolino MP, Puech JP, Kremer EJ, Reuser AJ, Mbebi C, Verdière-Sahuqué M, Kahn A, Poenaru L.
    Hum Mol Genet; 1998 Oct 15; 7(11):1695-702. PubMed ID: 9736771
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  • 14. Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4).
    Huie ML, Menaker M, McAlpine PJ, Hirschhorn R.
    Ann Hum Genet; 1996 Sep 15; 60(5):365-8. PubMed ID: 8912788
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  • 18. Recombinant human acid alpha-glucosidase generated in bacteria: antigenic, but enzymatically inactive.
    Martiniuk F, Tzall S, Chen A.
    DNA Cell Biol; 1992 Nov 15; 11(9):701-6. PubMed ID: 1418627
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  • 19. Isolation and characterisation of a recombinant, precursor form of lysosomal acid alpha-glucosidase.
    Fuller M, Van der Ploeg A, Reuser AJ, Anson DS, Hopwood JJ.
    Eur J Biochem; 1995 Dec 15; 234(3):903-9. PubMed ID: 8575451
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  • 20. [Pompe's disease--acid alpha-glucosidase deficiency--a review].
    Iwamasa T, Chinen K, Hirayasu T.
    Nihon Rinsho; 1993 Sep 15; 51(9):2324-9. PubMed ID: 8411709
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