Article
Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene.
BMC medical genetics - 18 Feb 2016
Zhang Guolong, Shao Minhua, Li Zhixiu, Gu Yong, Du Xufeng, Wang Xiuli, Li Ming
Abstract excerpt
BACKGROUND: Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder caused by the mutations of adenosine deaminase acting on RNA1 (ADAR1) gene. We present a clinical and genetic study of seven unrelated families and two sporadic cases with DSH for mutations in the full coding sequence of ADAR1 gene. METHODS: ADAR1 gene was sequenced in seven unrelated families and two sporadic...
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