Novel human pathological mutations. Gene symbol: UBE3A. Disease: Angelman Syndrome.
Tzagkaraki
Evmorfia
E
Medical Genetics, Athens University, Medical School, Thivon & Livadias, Athens, Greece.
Christalena
Sofocleous
S
Helen
Fryssira
F
Argyris
Dinopoulos
D
Ariadni
Mavrou
M
Emmanuel
Kanavakis
K
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*
D003062:Codon; D009711:Nucleotides; C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases