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UBE3A“mutations” in two unrelated and phenotypically different Angelman syndrome patients

✍ Scribed by David C. Y. Fung; Bing Yu; K. F. Cheong; Arabella Smith; R. J. Trent

Publisher: Springer
Year: 1998
Tongue: English
Weight: 125 KB
Volume: 102
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s004390050727

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## Abstract Angelman syndrome (AS) is a genetic disorder caused by a deficiency of __UBE3A__ imprinted gene expression from the maternal chromosome 15. In 10% of AS cases the genetic cause is a mutation affecting the maternal copy of the __UBE3A__ gene. In two large Spanish series of clinically str