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The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report

INTRODUCTION: Angelman Syndrome (AS) is a rare disorder with a relatively well-defined phenotype caused by lack of expression of the maternally inherited ubiquitin-protein ligase E3A (UBE3A) gene in the brain. This article describes the role of genetic testing using whole-exome sequencing (WES) in d...

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Detalles Bibliográficos
Autores principales:	Triono, Agung, Iskandar, Kristy, Nugrahanto, Andika Priamas, Hadiyanto, Marissa Leviani, Gunadi, Herini, Elisabeth Siti
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683671/ https://www.ncbi.nlm.nih.gov/pubmed/34976390 http://dx.doi.org/10.1016/j.amsu.2021.103170

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