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Journal Abstract Search

193 related items for PubMed ID: 8702417

  • 1. A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III.
    Okubo M, Aoyama Y, Murase T.
    Biochem Biophys Res Commun; 1996 Jul 16; 224(2):493-9. PubMed ID: 8702417
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  • 2. 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 16; 102(1):1-5. PubMed ID: 9490286
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  • 3. 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 16; 14(6):542-3. PubMed ID: 10571954
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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 Dec 16; 47(2):55-9. PubMed ID: 11924557
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  • 5. 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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  • 6. 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.
    Shen J, Bao Y, Chen YT.
    Hum Mutat; 1997 May 01; 9(1):37-40. PubMed ID: 8990006
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  • 8. 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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  • 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 31; 54(11):681-6. PubMed ID: 19834502
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  • 12. Abnormal processing of the glycoprotein IIb transcript due to a nonsense mutation in exon 17 associated with Glanzmann's thrombasthenia.
    Tomiyama Y, Kashiwagi H, Kosugi S, Shiraga M, Kanayama Y, Kurata Y, Matsuzawa Y.
    Thromb Haemost; 1995 May 31; 73(5):756-62. PubMed ID: 7482399
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  • 13. 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.
    Parvari R, Moses S, Shen J, Hershkovitz E, Lerner A, Chen YT.
    Eur J Hum Genet; 1997 May 31; 5(5):266-70. PubMed ID: 9412782
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  • 14. [AGL gene analysis of a pedigree with glycogen storage disease type III and identification of a novel mutation].
    Wu XY, Pan JX, Guo YB.
    Zhonghua Er Ke Za Zhi; 2013 Dec 31; 51(12):915-9. PubMed ID: 24495762
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  • 15. 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 31; 106(1):108-15. PubMed ID: 10982190
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  • 16. Debrancher enzyme activity in blood cells of families with type III glycogen storage disease. A method for diagnosis of heterozygotes.
    Chayoth R, Moses SW, Steinitz K.
    Isr J Med Sci; 1967 Jan 31; 3(3):422-6. PubMed ID: 5317552
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  • 17. A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.
    Mili A, Ben Charfeddine I, Amara A, Mamaï O, Adala L, Ben Lazreg T, Bouguila J, Saad A, Limem K, Gribaa M.
    Clin Genet; 2012 Dec 31; 82(6):534-9. PubMed ID: 22035446
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  • 18. Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I.
    Romano M, Danek GM, Baralle FE, Mazzotti R, Filocamo M.
    Blood Cells Mol Dis; 2000 Jun 31; 26(3):171-6. PubMed ID: 10950936
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