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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further define the genetic landscape. Through a collaboration between two consortia (EuroEPINOMICS and Epi4K/EPGP), we analyz...
Sparad:
| Materialtyp: | Artigo |
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| Språk: | Inglês |
| Publicerad: |
Elsevier
2014
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4185114/ https://ncbi.nlm.nih.gov/pubmed/25262651 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.08.013 |
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