A carregar...
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females
Recent studies revealed the power of whole-exome sequencing to identify mutations in sporadic cases with non-syndromic intellectual disability. We now identified de novo missense variants in NAA10 in two unrelated individuals, a boy and a girl, with severe global developmental delay but without any...
Na minha lista:
| Publicado no: | Eur J Hum Genet |
|---|---|
| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2015
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4402627/ https://ncbi.nlm.nih.gov/pubmed/25099252 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.150 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|