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Molecular Diagnostics of Duchenne/Becker Muscular Dystrophy Patients by Multiplex Ligation-Dependent Probe Amplification Analysis and Direct Sequencing Cover

Molecular Diagnostics of Duchenne/Becker Muscular Dystrophy Patients by Multiplex Ligation-Dependent Probe Amplification Analysis and Direct Sequencing

Balkan Journal of Medical Genetics
Volume 12 (2009): Issue 2 (December 2009)
By: A Todorova,  V Guergueltcheva,  J Genova,  V Mihaylova,  T Todorov,  T Tchamova,  B Georgieva,  I Kremensky,  I Tournev and  V Mitev  
Open Access
|Feb 2010

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DOI: https://doi.org/10.2478/v10034-010-0002-z | Journal eISSN: 2199-5761
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Language: English
Page range: 3 - 9
Published on: Feb 19, 2010
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Duchenne/Becker muscular dystrophy (DMB/BMD),
DMD gene,
Dystrophin,
Deletions,
Duplications,
Point mutations,
Multiplex ligation-dependent probe amplification (MLPA) analysis
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2010 A Todorova, V Guergueltcheva, J Genova, V Mihaylova, T Todorov, T Tchamova, B Georgieva, I Kremensky, I Tournev, V Mitev, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.

Volume 12 (2009): Issue 2 (December 2009)