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

Toshinobu Matsuura(Howard Hughes Medical Institute), James S. Sutcliffe(Howard Hughes Medical Institute), Ping Fang(Howard Hughes Medical Institute), Robert‐Jan H. Galjaard(Howard Hughes Medical Institute), Yong‐hui Jiang(Baylor College of Medicine), Claudia S. Benton(Baylor College of Medicine), Johanna M. Rommens(Hospital for Sick Children), Arthur L. Beaudet(Howard Hughes Medical Institute)
Nature Genetics
January 1, 1997
Cited by 875

Abstract


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