Ładuje się......
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...
Zapisane w:
| Wydane w: | Intractable Rare Dis Res |
|---|---|
| Główni autorzy: | , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2016
|
| Hasła przedmiotowe: | |
| Dostęp online: | 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 |
| Etykiety: |
Dodaj etykietę
Nie ma etykietki, Dołącz pierwszą etykiete!
|