A carregar...
Loss-of-function variants of SCN8A in intellectual disability without seizures
OBJECTIVE: To determine the functional effect of SCN8A missense mutations in 2 children with intellectual disability and developmental delay but no seizures. METHODS: Genomic DNA was analyzed by next-generation sequencing. SCN8A variants were introduced into the Na(v)1.6 complementary DNA by site-di...
Na minha lista:
| Publicado no: | Neurol Genet |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer
2017
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5499976/ https://ncbi.nlm.nih.gov/pubmed/28702509 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000170 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|