Article
Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria.
BMC medical genetics - 20 Jun 2014
Liu Qi, Wang Zhen, Wu Yuhong, Cao Lihua, Tang Qingzhu, Xing Xuesha, Ma Hongwei, Zhang Shifa, Luo Yang
Abstract excerpt
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 seven Chinese families with DSH. METHODS: All the coding exons including adjacent intronic as well as 5' and 3'...
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