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Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria
BACKGROUND: Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominantly inherited skin disease associated with mutations of ADAR1, the gene that encodes a double-stranded RNA-specific adenosine deaminase. The purpose of this study was to investigate the potential mutations in ADAR1 in sev...
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| Hauptverfasser: | , , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2014
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4105233/ https://ncbi.nlm.nih.gov/pubmed/24950769 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-69 |
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