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- Hermans M. M., De Graaff E., Kroos M. A., Mohkamsing S., Eussen B. J., Joosse M., Willemsen R., Kleijer W. J., Oostra B. A., Reuser A. J. 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):2213–2218. doi: 10.1093/hmg/3.12.2213. [DOI] [PubMed] [Google Scholar]
- Huie M. L., Chen A. S., Brooks S. S., Grix A., Hirschhorn R. 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). Hum Mol Genet. 1994 Jul;3(7):1081–1087. doi: 10.1093/hmg/3.7.1081. [DOI] [PubMed] [Google Scholar]
- Huie M. L., Chen A. S., Tsujino S., Shanske S., DiMauro S., Engel A. G., Hirschhorn R. Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation. Hum Mol Genet. 1994 Dec;3(12):2231–2236. doi: 10.1093/hmg/3.12.2231. [DOI] [PubMed] [Google Scholar]
- Newton C. R., Graham A., Heptinstall L. E., Powell S. J., Summers C., Kalsheker N., Smith J. C., Markham A. F. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res. 1989 Apr 11;17(7):2503–2516. doi: 10.1093/nar/17.7.2503. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Van der Kraan M., Kroos M. A., Joosse M., Bijvoet A. G., Verbeet M. P., Kleijer W. J., Reuser A. J. Deletion of exon 18 is a frequent mutation in glycogen storage disease type II. Biochem Biophys Res Commun. 1994 Sep 30;203(3):1535–1541. doi: 10.1006/bbrc.1994.2360. [DOI] [PubMed] [Google Scholar]