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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...
Gorde:
| Argitaratua izan da: | Eur J Hum Genet |
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| Egile nagusia: | |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Springer International Publishing
2019
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| Gaiak: | |
| Sarrera elektronikoa: | 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 |
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