Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations

Stijn N.V. Bossuyt, A. Mattijs Punt, Ilona J. De Graaf, Janny Van Den Burg, Mark G. Williams, Helen Heussler, Ype Elgersma*, Ben Distel*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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Biochemistry, Genetics and Molecular Biology