Loading...
Mendelian disease caused by variants affecting recognition of Z-DNA and Z-RNA by the Zα domain of the double-stranded RNA editing enzyme ADAR
Variants in the human double-stranded RNA editing enzyme ADAR produce three well-characterized rare Mendelian Diseases: Dyschromatosis Symmetrica Hereditaria (OMIM: 127400), Aicardi-Goutières syndrome (OMIM: 615010) and Bilateral Striatal Necrosis/Dystonia. ADAR encodes p150 and p110 protein isoform...
Na minha lista:
| Udgivet i: | Eur J Hum Genet |
|---|---|
| Hovedforfatter: | |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Springer International Publishing
2019
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6906422/ https://ncbi.nlm.nih.gov/pubmed/31320745 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0458-6 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|