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Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa

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Journal of Inherited Metabolic Disease

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References

  • Bao Y, Dawson TL, Chen YT (1996) Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5′ flanking region. Genomics 38: 155-165.

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  • Chen YT, Burchell A (1995) Glycogen storage disease. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 935-965.

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  • Shen JJ, Bao Y, Lui HM, Lee P, Leonard JV, Chen YT (1996) Mutations in the exon 3 of the glycogen debranching enzyme are associated with glycogen storage disease type III that is di.erentially expressed in liver and muscle. J Clin Invest 98: 352-357.

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Authors and Affiliations

  1. Centro Dino Ferrari, Istituto di Clinica Neurologica, Università degli Studi di Milano, IRCCS Ospedale Maggiore Policlinico, Milan, Italy; and

    G. M. Hadjigeorgiou, G. P. Comi, A. Bordoni, S. Salani, F. Fortunato, S. Lucchiari, N. Bresolin, L. Franceschina & G. Scarlato

  2. Division of Neurology, Red Cross Hospital, Athens, Greece

    G. M. Hadjigeorgiou & A. Papadimitriou

  3. Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA

    J. Shen & Y.-T. Chen

  4. Intituto di Clinica Neurologica II, Università di Messina, Messina, Italy

    A. Toscano & C. Rodolico

  5. Servizio di Neurologia, Ospedale delgi Infermi, Rimini, Italy

    M. G. Piscaglia

Authors
  1. G. M. Hadjigeorgiou
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  2. G. P. Comi
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  3. A. Bordoni
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  4. J. Shen
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  5. Y.-T. Chen
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  6. S. Salani
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  7. A. Toscano
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  8. F. Fortunato
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  9. S. Lucchiari
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  10. N. Bresolin
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  11. C. Rodolico
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  12. M. G. Piscaglia
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  13. L. Franceschina
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  14. A. Papadimitriou
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  15. G. Scarlato
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Hadjigeorgiou, G.M., Comi, G.P., Bordoni, A. et al. Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa. J Inherit Metab Dis 22, 762–763 (1999). https://doi.org/10.1023/A:1005572906807

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  • DOI: https://doi.org/10.1023/A:1005572906807

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