Germline mosaicism of a novel UBE3A mutation in Angelman syndrome.
Hosoki
Kana
K
Takano
Kyoko
K
Sudo
Akira
A
Tanaka
Soichiro
S
Saitoh
Shinji
S
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*
C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases