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Molecular Diagnosis of Duchenne Muscular Dystrophy: Past, Present and Future in Relation to Implementing Therapies
Duchenne muscular dystrophy (DMD) is the commonest and best-known of the muscular dystrophies. Being an X-linked disorder, it affects mainly boys. The disease gene was identified in 1987, with the majority of mutations demonstrated to be large-scale deletions. Current best practice molecular diagnos...
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| Main Authors: | , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
The Australian Association of Clinical Biochemists
2011
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3157948/ https://ncbi.nlm.nih.gov/pubmed/21912442 |
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