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Acta Medica Bulgarica
Volume 47 (2020): Issue 1 (May 2020)
Open Access
Molecular-Genetic Diagnostics of Angelman Syndrome – The Bulgarian Experience
B. Georgieva
B. Georgieva
Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University – Sofia
Bulgaria
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Georgieva, B.
,
S. Atemin
S. Atemin
Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University – Sofia
Bulgaria
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Atemin, S.
,
A. Todorova
A. Todorova
Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University – Sofia
Bulgaria
AND Genetic Medico-Diagnostic Laboratory “Genica”
Sofia, Bulgaria
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Todorova, A.
,
T. Todorov
T. Todorov
AND Genetic Medico-Diagnostic Laboratory “Genica”
Sofia, Bulgaria
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Todorov, T.
,
A. Miteva
A. Miteva
Department of Medical Ethics and Law, Faculty of Public Health, Medical University – Sofia
Bulgaria
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Miteva, A.
,
D. Avdjieva-Tzavella
D. Avdjieva-Tzavella
Children’s Hospital “Prof. Ivan Mitev MD”, Department of Endocrinological and Genetic Diseases, Medical Faculty, Medical University – Sofia
Bulgaria
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Avdjieva-Tzavella, D.
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V. Mitev
V. Mitev
Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University – Sofia
Bulgaria
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Mitev, V.
May 21, 2020
Acta Medica Bulgarica
Volume 47 (2020): Issue 1 (May 2020)
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Published Online:
May 21, 2020
Page range:
9 - 16
Received:
May 01, 2019
Accepted:
Jun 01, 2019
DOI:
https://doi.org/10.2478/amb-2020-0002
Keywords
Angelman syndrome
,
UBE3A
,
imprinting center
,
CpG methylation
,
15q11.2-q13
,
paternal UPD
© 2018 B. Georgieva et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
