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Journal Abstract Search

189 related items for PubMed ID: 20490926

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  • 4. 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; 61(7):641-5. PubMed ID: 26984562
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  • 6. Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.
    Shaiu WL, Kishnani PS, Shen J, Liu HM, Chen YT.
    Mol Genet Metab; 2000 Jan; 69(1):16-23. PubMed ID: 10655153
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  • 8. 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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  • 9. 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 01; 54(11):681-6. PubMed ID: 19834502
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  • 13. A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.
    Rousseau-Nepton I, Okubo M, Grabs R, FORGE Canada Consortium, Mitchell J, Polychronakos C, Rodd C.
    CMAJ; 2015 Feb 03; 187(2):E68-E73. PubMed ID: 25602008
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  • 14. 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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  • 16. [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 15; 47(6):416-20. PubMed ID: 19951465
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  • 17. Mutational analysis of the AGL gene: five novel mutations in GSD III patients.
    Lucchiari S, Donati MA, Melis D, Filocamo M, Parini R, Bresolin N, Comi GP.
    Hum Mutat; 2003 Oct 15; 22(4):337. PubMed ID: 12955720
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  • 18. Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.
    Lucchiari S, Donati MA, Parini R, Melis D, Gatti R, Bresolin N, Scarlato G, Comi GP.
    Hum Mutat; 2002 Dec 15; 20(6):480. PubMed ID: 12442284
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  • 19. [Diagnosis of glycogen storage disease type IIIA by detecting glycogen debranching enzyme activity, glycogen content and structure in muscle].
    Wang W, We M, Song HM, Qiu ZQ, Zhang WM, Wu XY, Lu CX, Qi JM, Jing H, Li F.
    Zhonghua Er Ke Za Zhi; 2009 Aug 15; 47(8):608-12. PubMed ID: 19951495
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  • 20. 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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