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1994 | 1 |
2003 | 1 |
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The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.
Hum Mol Genet. 1994 Dec;3(12):2213-8. doi: 10.1093/hmg/3.12.2213.
Hum Mol Genet. 1994.
PMID: 7881422
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.
Pittis MG, et al.
Am J Med Genet A. 2003 Sep 1;121A(3):225-30. doi: 10.1002/ajmg.a.20164.
Am J Med Genet A. 2003.
PMID: 12923862
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