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Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations.
Alila-Fersi, Olfa; Aloulou, Hajer; Werteni, Ines; Mahfoudh, Nadia; Chabchoub, Imen; Kammoun, Hassen; Keskes, Leila; Hachicha, Mongia; Belguith, Neila; Fakhfakh, Faiza.
Affiliation
  • Alila-Fersi O; Molecular Genetics and functional Laboratory, Faculty of Science of Sfax, University of Sfax, Route Soukra Km2.5, 3000, Sfax, Tunisia. alilafersiolfa@yahoo.fr.
  • Aloulou H; Department of Pediatrics, Hédi Chaker Hospital, 3029, Sfax, Tunisia.
  • Werteni I; Department of Pediatrics, Rabta hospital, Tunis, Tunisia.
  • Mahfoudh N; Department of Immunology, Hedi Chaker Hospital, 3029, Sfax, Tunisia.
  • Chabchoub I; Department of Pediatrics, Hédi Chaker Hospital, 3029, Sfax, Tunisia.
  • Kammoun H; Human Molecular Genetics Laboratory, Faculty of Medecine of Sfax, University of Sfax, Sfax, Tunisia.
  • Keskes L; Human Molecular Genetics Laboratory, Faculty of Medecine of Sfax, University of Sfax, Sfax, Tunisia.
  • Hachicha M; Department of Pediatrics, Hédi Chaker Hospital, 3029, Sfax, Tunisia.
  • Belguith N; Department of medical Genetics, Hédi Chaker Hospital, 3029, Sfax, Tunisia.
  • Fakhfakh F; Molecular Genetics and functional Laboratory, Faculty of Science of Sfax, University of Sfax, Route Soukra Km2.5, 3000, Sfax, Tunisia. faiza.fakhfakh02@gmail.com.
J Mol Neurosci ; 70(7): 1100-1109, 2020 Jul.
Article in En | MEDLINE | ID: mdl-32125626
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Glycogen Storage Disease Type II / Alpha-Glucosidases / Mutation Type of study: Risk_factors_studies Limits: Female / Humans / Infant / Male Language: En Journal: J Mol Neurosci Year: 2020 Document type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Glycogen Storage Disease Type II / Alpha-Glucosidases / Mutation Type of study: Risk_factors_studies Limits: Female / Humans / Infant / Male Language: En Journal: J Mol Neurosci Year: 2020 Document type: Article