De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

著者: Toshinobu Matsuura, James S. Sutcliffe, Ping Fang, Robert‐Jan H. Galjaard, Yong‐hui Jiang, Claudia S. Benton, Johanna M. Rommens, Arthur L. Beaudet - Nature Genetics 1997 被引用: 875