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...

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Autores principales: Georgieva B., Atemin S., Todorova A., Todorov T., Miteva A., Avdjieva-Tzavella D., Mitev V.
Formato: article
Lenguaje:EN
Publicado: Sciendo 2020
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Acceso en línea:https://doaj.org/article/e66489541a7c46b4860c5d99d5ea3b73
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