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

Toshinobu Matsuura(Howard Hughes Medical Institute), Arthur L. Beaudet(Lunar and Planetary Institute), Yong‐hui Jiang(Duke University), Claudia S. Benton(Baylor College of Medicine), James S. Sutcliffe(Vanderbilt University), Johanna M. Rommens(University of Toronto), Ping Fang(Beijing Institute of Technology), Robert‐Jan H. Galjaard(Howard Hughes Medical Institute)
Nature Genetics
January 1, 1997
10.1038/ng0197-74
Cited by 875

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