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Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.
J Hum Genet. 2009 Nov;54(11):681-6. doi: 10.1038/jhg.2009.100. Epub 2009 Oct 16.
J Hum Genet. 2009.
PMID: 19834502
Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions.
Cheng A, Zhang M, Okubo M, Omichi K, Saltiel AR.
Cheng A, et al.
Hum Mol Genet. 2009 Jun 1;18(11):2045-52. doi: 10.1093/hmg/ddp128. Epub 2009 Mar 19.
Hum Mol Genet. 2009.
PMID: 19299494
Free PMC article.
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