๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

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

โœ Scribed by Matsuura, Toshinobu; Sutcliffe, James S.; Fang, Ping; Galjaard, Robert-Jan; Jiang, Yong-hui; Benton, Claudia S.; Rommens, Johanna M.; Beaudet, Arthur L.


Book ID
109914983
Publisher
Nature Publishing Group
Year
1997
Tongue
English
Weight
571 KB
Volume
15
Category
Article
ISSN
1061-4036

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Novel mutations of ubiquitin protein lig
โœ S. Russo; F. Cogliati; M. Viri; F. Cavalleri; A. Selicorni; L. Turolla; S. Belli ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 42 KB ๐Ÿ‘ 2 views

Angelman syndrome is a neurobehavioral disorder caused by defects of imprinted gene(s) on chromosome 15q11-13. AS-specific DNA methylation is found in patients carrying 3-4 Mb deletions (โˆผ โˆผ70%), paternal uniparental disomy (3-5%) or imprinting center mutations (2-9%), while normal methylation patte