title: Germline mosaicism of a novel UBE3A mutation in Angelman syndrome.
authors.forename: Kana
authors.initials: K
authors.lastname: Hosoki
authors.forename: Kyoko
authors.initials: K
authors.lastname: Takano
authors.forename: Akira
authors.initials: A
authors.lastname: Sudo
authors.forename: Soichiro
authors.initials: S
authors.lastname: Tanaka
authors.forename: Shinji
authors.initials: S
authors.lastname: Saitoh
mesh_terms: D000293:Adolescent; D017398:Alternative Splicing / Q000235:genetics; D000595:Amino Acid Sequence; D017204:Angelman Syndrome / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D009030:Mosaicism; D010375:Pedigree; D017384:Sequence Deletion; D035781:Siblings; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases