A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families

BACKGROUND AND OBJECTIVES: Glycogen storage disease type 3 (GSD III) is an autosomal recessive disorder caused by genetic mutations in the gene AGL. AGL encodes amylo-α-1, 6-glucosidase, 4-α-glucanotransferase, a glycogen debranching enzyme. GSD III is characterized by fasting hypoglycemia, hepatome...

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Detalles Bibliográficos
Autores principales: Basit, Sulman, Malibari, Omhani, Al Balwi, Alia Mahmood, Abdusamad, Firoz, Ismail, Feras Abu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: King Faisal Specialist Hospital and Research Centre 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6074555/
https://www.ncbi.nlm.nih.gov/pubmed/25827695
http://dx.doi.org/10.5144/0256-4947.2014.390

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