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Journal Abstract Search

191 related items for PubMed ID: 10982190

  • 1. Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan.
    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.
    Hum Genet; 2000 Jan; 106(1):108-15. PubMed ID: 10982190
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  • 2. 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.
    Okubo M, Horinishi A, Suzuki Y, Murase T, Hayasaka K.
    Am J Med Genet; 2000 Jul 31; 93(3):211-4. PubMed ID: 10925384
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  • 3. 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.
    Okubo M, Horinishi A, Nakamura N, Aoyama Y, Hashimoto M, Endo Y, Murase T.
    Hum Genet; 1998 Jan 31; 102(1):1-5. PubMed ID: 9490286
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  • 4. Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III.
    Horinishi A, Okubo M, Tang NL, Hui J, To KF, Mabuchi T, Okada T, Mabuchi H, Murase T.
    J Hum Genet; 2002 Jan 31; 47(2):55-9. PubMed ID: 11924557
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  • 5. [Molecular genetic analysis of 10 Chinese patients with glycogen storage disease type III].
    Wang X, Qiu WJ, Ye J, Han LS, Zhang HW, Jiang LR, Zhang YF, Gu XF.
    Zhonghua Er Ke Za Zhi; 2009 Jun 31; 47(6):416-20. PubMed ID: 19951465
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  • 6. 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.
    Shen J, Bao Y, Liu HM, Lee P, Leonard JV, Chen YT.
    J Clin Invest; 1996 Jul 15; 98(2):352-7. PubMed ID: 8755644
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  • 7. Molecular characterization of Egyptian patients with glycogen storage disease type IIIa.
    Endo Y, Fateen E, Aoyama Y, Horinishi A, Ebara T, Murase T, Shin YS, Okubo M.
    J Hum Genet; 2005 Jul 15; 50(10):538-542. PubMed ID: 16189622
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  • 8. Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.
    Endo Y, Horinishi A, Vorgerd M, Aoyama Y, Ebara T, Murase T, Odawara M, Podskarbi T, Shin YS, Okubo M.
    J Hum Genet; 2006 Jul 15; 51(11):958-963. PubMed ID: 17047887
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  • 9. Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient.
    Okubo M, Kanda F, Horinishi A, Takahashi K, Okuda S, Chihara K, Murase T.
    Hum Mutat; 1999 Dec 15; 14(6):542-3. PubMed ID: 10571954
    [Abstract] [Full Text] [Related]

  • 10. 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.
    Aoyama Y, Ozer I, Demirkol M, Ebara T, Murase T, Podskarbi T, Shin YS, Gokcay G, Okubo M.
    J Hum Genet; 2009 Nov 15; 54(11):681-6. PubMed ID: 19834502
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  • 13. Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.
    Lucchiari S, Fogh I, Prelle A, Parini R, Bresolin N, Melis D, Fiori L, Scarlato G, Comi GP.
    Am J Med Genet; 2002 May 01; 109(3):183-90. PubMed ID: 11977176
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  • 16. Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.
    Abdullah IS, Teh SH, Khaidizar FD, Ngu LH, Keng WT, Yap S, Mohamed Z.
    Genes Genomics; 2019 Aug 01; 41(8):885-893. PubMed ID: 31028654
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  • 20. Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.
    Lu C, Qiu Z, Sun M, Wang W, Wei M, Zhang X.
    J Hum Genet; 2016 Jul 01; 61(7):641-5. PubMed ID: 26984562
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