Nalaganje...
A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings
BACKGROUND: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by the multisytemic accumulation of neutral lipids inside the cytoplasmic lipid droplets. This condition is caused by mutations in the abhydrolase domain containing 5 gene (ABHD5). In CDS the skin involv...
Shranjeno v:
| izdano v: | Lipids Health Dis |
|---|---|
| Main Authors: | , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BioMed Central
2019
|
| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6935165/ https://ncbi.nlm.nih.gov/pubmed/31883530 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12944-019-1181-6 |
| Oznake: |
Označite
Brez oznak, prvi označite!
|