Article
The spectrum of mutations in UBE3A causing Angelman syndrome.
Human molecular genetics - 1 Jan 1999
Fang P, Lev-Lehman E, Tsai T F, Matsuura T, Benton C S, Sutcliffe J S, Christian S L, Kubota T, Halley D J, Meijers-Heijboer H, Langlois S, Graham J M, Beuten J, Willems P J, Ledbetter D H, Beaudet A L
Abstract excerpt
Angelman syndrome (AS) is characterized by mental retardation, absence of speech, seizures and motor dysfunction. AS is caused by maternal deletions for chromosome 15q11-q13, paternal uniparental disomy (UPD), imprinting defects or loss-of-function mutations in the UBE3A locus which encodes E6-AP ubiquitin-protein ligase. The UBE3A gene is imprinted with paternal silencing in human brain and similar silencing of...
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