title: Phenotypical variability in glycogen storage disease type III with a recurrent AGL mutation c.750-753delAGAC.
authors.forename: Minoru
authors.initials: M
authors.lastname: Okubo
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Spengos
authors.forename: Panagiota
authors.initials: P
authors.lastname: Manta
authors.forename: Ekram
authors.initials: E
authors.lastname: Fateen
mesh_terms: D000328:Adult; D017353:Gene Deletion; D014644:Genetic Variation / Q000235:genetics*; D006010:Glycogen Storage Disease Type III / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D012008:Recurrence