Article
Molecular and clinical characterization of Angelman syndrome in Chinese patients.
Clinical genetics - 1 Mar 2014
Bai J-L, Qu Y-J, Jin Y-W, Wang H, Yang Y-L, Jiang Y-W, Yang X-Y, Zou L-P, Song F
Abstract excerpt
Angelman syndrome (AS) is a neurobehavioral disorder caused by lack of function of the maternal copy of the ubiquitin-protein ligase E3A (UBE3A) gene. In our study, 49 unrelated patients with classic AS phenotypes were confirmed by methylation-specific PCR (MS-PCR) analysis, short tandem repeat linkage analysis, and mutation screening of the UBE3A gene. Among the Chinese AS patients, 83.7% (41/49) had deletions...
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