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

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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Bibliographic Details
Main Authors: Triono, Agung, Iskandar, Kristy, Nugrahanto, Andika Priamas, Hadiyanto, Marissa Leviani, Gunadi, Gunadi, Herini, Elisabeth Siti
Format: Article PeerReviewed
Language:English
Published: Elsevier Ltd 2022
Subjects:
Paediatrics
Online Access:https://repository.ugm.ac.id/283341/1/43.pdf
https://repository.ugm.ac.id/283341/
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85121205163&doi=10.1016%2fj.amsu.2021.103170&partnerID=40&md5=ef6b3979249698515c40553d62cfd9ec
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Institution: Universitas Gadjah Mada
Language: English

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https://repository.ugm.ac.id/283341/1/43.pdf
https://repository.ugm.ac.id/283341/
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85121205163&doi=10.1016%2fj.amsu.2021.103170&partnerID=40&md5=ef6b3979249698515c40553d62cfd9ec

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