| 1 | AGL, GSD3
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| Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions.
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| Cheng A, Zhang M, Okubo M, Omichi K, Saltiel AR.
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| Hum Mol Genet 18(11):2045-52. Epub 2009 Mar 19.
2009
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| 2 | AGL, GSD3
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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.
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| Aoyama Y, Ozer I, Demirkol M, Ebara T, Murase T, Podskarbi T, Shin YS, Gokcay G, Okubo M.
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| J Hum Genet 54(11):681-6. Epub 2009 Oct 16.PMID: 19834502 2009
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| 3 | AGL, GSD3
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| Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3.
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| Schoser B, Gläser D, Müller-Höcker J.
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| Am J Med Genet A 146A(22):2911-5.
2008
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| 4 | AGL, GSD3
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| Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.
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| Endo Y, Horinishi A, Vorgerd M, Aoyama Y, Ebara T, Murase T, Odawara M, Podskarbi T, Shin YS, Okubo M.
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| J Hum Genet 51(11):958-63. Epub 2006 Sep 19.
2006
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| 5 | AGL, GSD3
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| Glycogen debranching enzyme association with beta-subunit regulates AMP-activated protein kinase activity.
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| Sakoda H, Fujishiro M, Fujio J, Shojima N, Ogihara T, Kushiyama A, Fukushima Y, Anai M, Ono H, Kikuchi M, Horike N, Viana AY, Uchijima Y, Kurihara H, Asano T.
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| Am J Physiol Endocrinol Metab 289(3):E474-81. Epub 2005 May 10. 2005
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| 6 | AGL, GSD3
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| Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III.
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| Horinishi A, Okubo M, Tang NL, Hui J, To KF, Mabuchi T, Okada T, Mabuchi H, Murase T.
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| J Hum Genet 47(2):55-9. 2002
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| 7 | AGL, GSD3
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| Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan.
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| Okubo M, Horinishi A, Takeuchi M, Suzuki Y, Sakura N, Hasegawa Y, Igarashi T, Goto K, Tahara H, Uchimoto S, Omichi K, Kanno H, Hayasaka K, Murase T.
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| Hum Genet 106:108-115 2000
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| 8 | AGL, GSD3
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| Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin.
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| Okubo M, Horinishi A, Suzuki Y, Murase T, Hayasaka K.
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| Am J Med Genet 93(3):211-4. 2000
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| 9 | GSD3, CDC42, MSUD2, FCER1A, GNAI3, GUCA2A, ITPKB, MATN1, MCL1, NGF, PRDX1, PTPN7, S100A10
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| A comprehensive view of human chromosome 1.
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| White PS, Sulman EP, Porter CJ, Matise TC.
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| Genome Res 9(10):978-88 1999
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| 10 | GSD3
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| A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.
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| Okubo M, Horinishi A, Nakamura N, Aoyama Y, Hashimoto M, Endo Y, Murase T.
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| Hum Genet 102(1):1-5. 1998
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| 11 | GSD3
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| Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient.
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| Parvari R, et al.
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| J Inherit Metab Dis 21 : 141-148. 1998
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| 12 | GSD3
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| A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.
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| Shen J, et al.
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| Hum Mutat 9 : 37-40. 1997
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| 13 | GSD3
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| Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III.
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| Shen J, et al.
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| J Med Genet 34 : 34-38. 1997
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| 14 | AGL, GSD3
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| A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.
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| Parvari R, Moses S, Shen J, Hershkovitz E, Lerner A, Chen YT.
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| Eur J Hum Genet 5(5):266-70. 1997
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| 15 | GSD3
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| Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.
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| Shen J, et al.
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| J Clin Invest 98 : 352-357. 1996
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| 16 | GSD3
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| Assignment of the human glycogen debrancher gene to chromosome 1p21.
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| Yang-Feng TL, et al.
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| Genomics 13 : 931-934. 1992
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| 17 | GSD3
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| Glycogen storage disease in Israel. A clinical, biochemical and genetic study.
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| Levin S, et al.
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| Israel J Med Sci 3 : 397-410. 1967
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