title: UBE3A, c.1347_1348delGA: a mutation in question.
authors.forename: Christalena
authors.initials: C
authors.lastname: Sofocleous
authors.forename: Evmorfia
authors.initials: E
authors.lastname: Tzagkaraki
authors.forename: Konstantina
authors.initials: K
authors.lastname: Kosma
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Kanavakis
authors.forename: Sofia
authors.initials: S
authors.lastname: Kitsiou-Tzeli
mesh_terms: D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases