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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| Main Authors: | , , , , , |
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| Format: | Article PeerReviewed |
| Language: | English |
| Published: |
Elsevier Ltd
2022
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| Subjects: | |
| 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 |