Associated Papers
A luminescence-based biosensor to measure endogenous UBE3A activity.
Xing L et al.
Iscience, 2025
A Scalable, Cell-based Method for the Functional Assessment of Ube3a Variants.
Stelzer JA et al.
Journal of Visualized Experiments : Jove, 2022
Screening of UBE3A gene in patients referred for Angelman Syndrome.
Tzagkaraki E et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2013
Novel human pathological mutations. Gene symbol: UBE3A. Disease: Angelman Syndrome.
Tzagkaraki E et al.
Human Genetics, 2009
Gene symbol: UBE3A. Disease: Angelman syndrome.
Mueller OT et al.
Human Genetics, 2008
Gene symbol: UBE3A. Disease: Angelman syndrome.
Mueller OT et al.
Human Genetics, 2008
UBE3A gene mutations in Finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis.
Rapakko K et al.
American Journal of Medical Genetics. Part A, 2004
Denaturing high-performance liquid chromatography for the detection of mutations and polymorphisms in UBE3A.
Bercovich D et al.
Genetic Testing, 2003
The spectrum of mutations in UBE3A causing Angelman syndrome.
Fang P et al.
Human Molecular Genetics, 1999
Mutation analysis of UBE3A in Angelman syndrome patients.
Malzac P et al.
American Journal of Human Genetics, 1998
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.
Matsuura T et al.
Nature Genetics, 1997
Select a paper to view details