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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Expert Opin Orphan Drugs
Huvudupphovsman: Rizzo, William B.
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!