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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.
Hermans MM, De Graaff E, Kroos MA, Mohkamsing S, Eussen BJ, Joosse M, Willemsen R, Kleijer WJ, Oostra BA, Reuser AJ. Hermans MM, et al. Among authors: oostra ba. Hum Mol Genet. 1994 Dec;3(12):2213-8. doi: 10.1093/hmg/3.12.2213. Hum Mol Genet. 1994. PMID: 7881422
HindIII/EcoRI polymorphism in the GAA gene.
Hoefsloot LH, Hoogeveen-Westerveld M, Sakuraba H, Suzuki Y, Oostra BA, Reuser AJ. Hoefsloot LH, et al. Among authors: oostra ba. Nucleic Acids Res. 1990 Oct 11;18(19):5921. doi: 10.1093/nar/18.19.5921. Nucleic Acids Res. 1990. PMID: 1977144 Free PMC article.
560 results