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Identification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome
BACKGROUND: Dravet syndrome is a severe form of epilepsy. Majority of patients have a mutation in SCN1A gene, which encodes a voltage-gated sodium channel. A recent study has demonstrated that 16% of SCN1A-negative patients have a mutation in PCDH19, the gene encoding protocadherin-19. Mutations in...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Public Library of Science
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3405017/ https://ncbi.nlm.nih.gov/pubmed/22848613 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0041802 |
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