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Molecular-Genetic Diagnostics of Angelman Syndrome – The Bulgarian Experience Cover

Molecular-Genetic Diagnostics of Angelman Syndrome – The Bulgarian Experience

Acta Medica Bulgarica
Volume 47 (2020): Issue 1 (May 2020)
By: B. Georgieva,  S. Atemin,  A. Todorova,  T. Todorov,  A. Miteva,  D. Avdjieva-Tzavella and  V. Mitev  
Open Access
|May 2020

Authors

B. Georgieva

gueorguievab@yahoo.com

Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University – Sofia, Bulgaria

S. Atemin

Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University – Sofia, Bulgaria

A. Todorova

Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University – Sofia, Bulgaria
AND Genetic Medico-Diagnostic Laboratory “Genica”, Sofia, Bulgaria

T. Todorov

AND Genetic Medico-Diagnostic Laboratory “Genica”, Sofia, Bulgaria

A. Miteva

Department of Medical Ethics and Law, Faculty of Public Health, Medical University – Sofia, Bulgaria

D. Avdjieva-Tzavella

Children’s Hospital “Prof. Ivan Mitev MD”, Department of Endocrinological and Genetic Diseases, Medical Faculty, Medical University – Sofia, Bulgaria

V. Mitev

Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University – Sofia, Bulgaria
DOI: https://doi.org/10.2478/amb-2020-0002 | Journal eISSN: 2719-5384 | Journal ISSN: 0324-1750
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Language: English
Page range: 9 - 16
Submitted on: May 1, 2019
Accepted on: Jun 1, 2019
Published on: May 21, 2020
Published by: Sofia Medical University
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year
Keywords:
Angelman syndrome,
UBE3A,
imprinting center,
CpG methylation,
15q11.2-q13,
paternal UPD
Related subjects:
Medicine,
Basic medical science,
Immunology,
Clinical medicine,
Clinical medicine, other

© 2020 B. Georgieva, S. Atemin, A. Todorova, T. Todorov, A. Miteva, D. Avdjieva-Tzavella, V. Mitev, published by Sofia Medical University
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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