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
Materias:	angelman syndrome ube3a imprinting center cpg methylation 15q11.2-q13 paternal upd Medicine R
Acceso en línea:	https://doaj.org/article/e66489541a7c46b4860c5d99d5ea3b73
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spelling	oai:doaj.org-article:e66489541a7c46b4860c5d99d5ea3b732021-12-02T14:59:51ZMolecular-Genetic Diagnostics of Angelman Syndrome – The Bulgarian Experience0324-175010.2478/amb-2020-0002https://doaj.org/article/e66489541a7c46b4860c5d99d5ea3b732020-05-01T00:00:00Zhttps://doi.org/10.2478/amb-2020-0002https://doaj.org/toc/0324-1750Objective: 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 alterations.Georgieva B.Atemin S.Todorova A.Todorov T.Miteva A.Avdjieva-Tzavella D.Mitev V.Sciendoarticleangelman syndromeube3aimprinting centercpg methylation15q11.2-q13paternal updMedicineRENActa Medica Bulgarica, Vol 47, Iss 1, Pp 9-16 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	angelman syndrome ube3a imprinting center cpg methylation 15q11.2-q13 paternal upd Medicine R
spellingShingle	angelman syndrome ube3a imprinting center cpg methylation 15q11.2-q13 paternal upd Medicine R Georgieva B. Atemin S. Todorova A. Todorov T. Miteva A. Avdjieva-Tzavella D. Mitev V. Molecular-Genetic Diagnostics of Angelman Syndrome – The Bulgarian Experience
description	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 alterations.
format	article
author	Georgieva B. Atemin S. Todorova A. Todorov T. Miteva A. Avdjieva-Tzavella D. Mitev V.
author_facet	Georgieva B. Atemin S. Todorova A. Todorov T. Miteva A. Avdjieva-Tzavella D. Mitev V.
author_sort	Georgieva B.
title	Molecular-Genetic Diagnostics of Angelman Syndrome – The Bulgarian Experience
title_short	Molecular-Genetic Diagnostics of Angelman Syndrome – The Bulgarian Experience
title_full	Molecular-Genetic Diagnostics of Angelman Syndrome – The Bulgarian Experience
title_fullStr	Molecular-Genetic Diagnostics of Angelman Syndrome – The Bulgarian Experience
title_full_unstemmed	Molecular-Genetic Diagnostics of Angelman Syndrome – The Bulgarian Experience
title_sort	molecular-genetic diagnostics of angelman syndrome – the bulgarian experience
publisher	Sciendo
publishDate	2020
url	https://doaj.org/article/e66489541a7c46b4860c5d99d5ea3b73
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Molecular-Genetic Diagnostics of Angelman Syndrome – The Bulgarian Experience

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