Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8310635 | Clinica Chimica Acta | 2015 | 12 Pages |
Abstract
NGS appears to be an efficient new strategy in DMD molecular diagnosis. It highlights the major evolution of the diagnostic strategy towards high throughput technologies, where bioinformatics analysis becomes the real challenge for variations detection. This is the first study reporting in vivo impact of this intronic mutation.
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Authors
Florence Roucher Boulez, Rita Menassa, Nathalie Streichenberger, Véronique Manel, Delphine Mallet-Motak, Yves Morel, Laurence Michel-Calemard,