Nature. 2011 Dec 21;481(7380):150-2. doi: 10.1038/nature10784.
Mutations in the maternal copy of the gene cause a neurodevelopmental disorder known as Angelman syndrome. Drugs that activate the normally silenced paternal copy of this gene may be of therapeutic value.
该基因的母源拷贝中的突变会导致一种称为安格曼综合征的神经发育障碍。激活该基因通常沉默的父源拷贝的药物可能具有治疗价值。