Laddar...
Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome
INTRODUCTION: Sjögren-Larsson syndrome (SLS) is a rare neurocutaneous disease characterized by ichthyosis, spasticity, intellectual disability and a distinctive retinopathy. It is caused by inactivating mutations in ALDH3A2, which codes for fatty aldehyde dehydrogenase (FALDH) and results in abnorma...
Sparad:
| I publikationen: | Expert Opin Orphan Drugs |
|---|---|
| Huvudupphovsman: | |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
2016
|
| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4989507/ https://ncbi.nlm.nih.gov/pubmed/27547594 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1517/21678707.2016.1154453 |
| Taggar: |
Lägg till en tagg
Inga taggar, Lägg till första taggen!
|