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Screening two mutations in the dysferlin gene by exon capture and sequence analysis: A case report
A patient with progressive muscular atrophy was assessed for the disease-associated genes by next-generation sequencing technology and exon trap and sequence analysis. The results of the investigation identified 399 genes, covering all exons in addition to 10 bp on either side, which are specific to...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
D.A. Spandidos
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4906935/ https://www.ncbi.nlm.nih.gov/pubmed/27347015 http://dx.doi.org/10.3892/etm.2016.3332 |