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An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia
In this study we assess exome sequencing (ES) as a diagnostic alternative for genetically heterogeneous disorders. Since ES readily identified a previously reported homozygous mutation in the CAPN3 gene for an individual with an undiagnosed limb girdle muscular dystrophy, we evaluated ES as a genera...
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| Autors principals: | , , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2012
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3329376/ https://ncbi.nlm.nih.gov/pubmed/22311686 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22032 |
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