Article
Mutation screening of the UBE3A/E6-AP gene in autistic disorder.
Molecular psychiatry - 1 Jan 1999
Veenstra-VanderWeele J, Gonen D, Leventhal B L, Cook E H
Abstract excerpt
Previous reports of individuals with autistic disorder with maternal duplications of 15q11-q13, the Prader-Willi/Angelman syndrome region, suggest this area as a source of candidate genes in autistic disorder. Maternal truncation mutations in UBE3A, which encodes for E6-AP ubiquitin-protein ligase, have been shown to cause Angelman syndrome, which can also result from the absence of maternal chromosomal material...
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