Article
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.
Nature genetics - 1 Jan 1997
Matsuura T, Sutcliffe J S, Fang P, Galjaard R J, Jiang Y H, Benton C S, Rommens J M, Beaudet A L
Abstract excerpt
Angelman syndrome (AS) is associated with maternal deletions of human chromosome 15q11-q13 and with paternal uniparental disomy for this region indicating that deficiency of an imprinted, maternally expressed gene within the critical interval is the likely cause of the syndrome. Although the gene for E6-AP ubiquitin-protein ligase (UBE3A) was mapped to the critical region for AS, evidence of expression from both...
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