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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Detalles Bibliográficos
Autores principales: Liu, Qi, Wang, Zhen, Wu, Yuhong, Cao, Lihua, Tang, Qingzhu, Xing, Xuesha, Ma, Hongwei, Zhang, Shifa, Luo, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105233/
https://www.ncbi.nlm.nih.gov/pubmed/24950769
http://dx.doi.org/10.1186/1471-2350-15-69

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