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Prenatal Diagnosis in Macedonian Duchenne Muscular Dystrophy Families Cover

Prenatal Diagnosis in Macedonian Duchenne Muscular Dystrophy Families

Open Access
|May 2009

References

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  17. Kocheva AS, Trivodalieva S, Vlaski-Jekic S, Kuturec M, Efremov DG. Identification of deletions and duplications of the DMD gene in Macedonian patients using Multiplex Ligation-dependent Probe Amplification (MLPA). Proceedings of the European Human Genetics Conference, Nice, France, June 2007.15(Suppl 1): 191.
DOI: https://doi.org/10.2478/v10034-008-0029-6 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
Language: English
Page range: 59 - 63
Published on: May 6, 2009
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services

© 2009 S Kocheva, S Trivodalieva, D Plaseska-Karanfilska, S Vlaski-Jekic, M Kuturec, G Efremov, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.