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Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel
The congenital muscular dystrophies (CMDs) comprise a heterogeneous group of heritable muscle disorders with often difficult to interpret muscle pathology, making them challenging to diagnose. Serial Sanger sequencing of suspected CMD genes, while the current molecular diagnostic method of choice, c...
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| Huvudupphovsmän: | , , , , , , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Public Library of Science
2013
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3543442/ https://ncbi.nlm.nih.gov/pubmed/23326386 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0053083 |
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