title: Novel human pathological mutations. Gene symbol: UBE3A. Disease: Angelman Syndrome.
authors.affiliation: Medical Genetics, Athens University, Medical School, Thivon & Livadias, Athens, Greece.
authors.forename: Evmorfia
authors.initials: E
authors.lastname: Tzagkaraki
authors.forename: Sofocleous
authors.initials: S
authors.lastname: Christalena
authors.forename: Fryssira
authors.initials: F
authors.lastname: Helen
authors.forename: Dinopoulos
authors.initials: D
authors.lastname: Argyris
authors.forename: Mavrou
authors.initials: M
authors.lastname: Ariadni
authors.forename: Kanavakis
authors.initials: K
authors.lastname: Emmanuel
mesh_terms: D017204:Angelman Syndrome / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D003062:Codon; D004252:DNA Mutational Analysis; D004569:Electroencephalography / Q000379:methods; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D009154:Mutation; D009711:Nucleotides / Q000235:genetics*; D017422:Sequence Analysis, DNA; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D003062:Codon; D009711:Nucleotides; C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases