Angelman syndrome: AS phenotype correlated with specific EEG pattern may result in a high detection rate of mutations in the UBE3A gene.
van den Ouweland
A M
AM
Bakker
P L
PL
Halley
D J
DJ
Catsman-Berrevoets
C E
CE
D000293:Adolescent; D000328:Adult; D017204:Angelman Syndrome / Q000235:genetics*; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D008025:Ligases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion; D044767:Ubiquitin-Protein Ligases
C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases; D008025:Ligases