Detection of imprinting mutations in Angelman syndrome using a probe for exon alpha of SNRPN.
Beuten
J
J
Sutcliffe
J S
JS
Casey
B M
BM
Beaudet
A L
AL
Hennekam
R C
RC
Willems
P J
PJ
D017204:Angelman Syndrome / Q000235:genetics*; D001324:Autoantigens / Q000235:genetics*; D015139:Blotting, Southern; D018899:CpG Islands; D019175:DNA Methylation; D015342:DNA Probes; D005091:Exons; D018392:Genomic Imprinting; D006801:Humans; D009154:Mutation; D011218:Prader-Willi Syndrome / Q000235:genetics; D017411:Ribonucleoproteins, Small Nuclear / Q000235:genetics*; D055517:snRNP Core Proteins
D001324:Autoantigens; D015342:DNA Probes; D017411:Ribonucleoproteins, Small Nuclear; C526417:SNRPN protein, human; D055517:snRNP Core Proteins