Molecular-Genetic Diagnostics of Angelman Syndrome – The Bulgarian Experience
Objective: The aim of the study was to determine the molecular mechanisms of mutagenesis in Bulgarian patients with Angelman syndrome (AS). AS is a severe neurodevelopmental disorder caused by loss of expression in brain of the maternally inherited UBE3A gene as a result of various 15q11.2-q13 alter...
Saved in:
Main Authors: | , , , , , , |
---|---|
Format: | article |
Language: | EN |
Published: |
Sciendo
2020
|
Subjects: | |
Online Access: | https://doaj.org/article/e66489541a7c46b4860c5d99d5ea3b73 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|