title: Prenatal diagnosis and carrier detection for a point mutation in UBE3A causing Angelman syndrome.
authors.forename: T F
authors.initials: TF
authors.lastname: Tsai
authors.forename: A
authors.initials: A
authors.lastname: Raas-Rothschild
authors.forename: Z
authors.initials: Z
authors.lastname: Ben-Neriah
authors.forename: A L
authors.initials: AL
authors.lastname: Beaudet
mesh_terms: D019943:Amino Acid Substitution; D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics*; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D005060:Europe / Q000208:ethnology; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007231:Infant, Newborn; D007493:Iraq / Q000208:ethnology; D007557:Israel; D007585:Jews; D008025:Ligases / Q000235:genetics*; D008297:Male; D016366:Open Reading Frames; D010375:Pedigree; D017354:Point Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D044767:Ubiquitin-Protein Ligases
chemical_list: C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases; D008025:Ligases