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Genetic Testing Requires NGS and Sanger Methodologies
Investigators from the EuroEPINOMICS rare epilepsy syndromes Dravet working group performed whole-exome sequencing on 31 trios that had been reported negative for SCN1A mutations by Sanger sequencing.
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Pediatric Neurology Briefs Publishers
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027035/ https://www.ncbi.nlm.nih.gov/pubmed/27651130 http://dx.doi.org/10.15844/pedneurbriefs-30-9-1 |