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Journal Abstract Search


120 related items for PubMed ID: 9660056

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  • 13. A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).
    Huie ML, Chen AS, Brooks SS, Grix A, Hirschhorn R.
    Hum Mol Genet; 1994 Jul; 3(7):1081-7. PubMed ID: 7981676
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  • 18. Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.
    Pittis MG, Montalvo AL, Miocic S, Martini C, Deganuto M, Candusso M, Ciana G, Bembi B.
    Am J Med Genet A; 2003 Sep 01; 121A(3):225-30. PubMed ID: 12923862
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