A carregar...
Targeted sequencing approach to identify genetic mutations in Nasu-Hakola disease
Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by sclerosing leukoencephalopathy and multifocal bone cysts, caused by a loss-of-function mutation of either TYROBP (DAP12) or TREM2. TREM2 and DAP12 constitute a receptor/adaptor signaling complex expressed exclusively o...
Na minha lista:
| Publicado no: | Intractable Rare Dis Res |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2016
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5116862/ https://ncbi.nlm.nih.gov/pubmed/27904822 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2016.01064 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|