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

Internet

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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