Prenatal diagnosis and carrier detection for a point mutation in UBE3A causing Angelman syndrome.
Tsai
T F
TF
Raas-Rothschild
A
A
Ben-Neriah
Z
Z
Beaudet
A L
AL
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
C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases; D008025:Ligases