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Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability
Whole exome sequencing using a parent-child trio design to identify de novo mutations provides an efficient method to identify novel genes for rare diseases with low reproductive fitness that are difficult to study by more classical genetic methods of linkage analysis. We describe a 15 y old female...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Landes Bioscience
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932847/ https://www.ncbi.nlm.nih.gov/pubmed/25003006 http://dx.doi.org/10.4161/rdis.26314 |