Article
Five novel mutations of RNA-specific adenosine deaminase gene with dyschromatosis symmetrica hereditaria.
Acta dermato-venereologica - 1 Jan 2007
Hou Yanxia, Chen Jianjun, Gao Min, Zhou Fusheng, Du Wenhui, Shen Yujun, Yang Sen, Zhang Xue-Jun
Abstract excerpt
Dyschromatosis symmetrica hereditaria (OMIM127400) is a rare autosomal dominant pigmentary genodermatosis caused by mutations in the RNA-specific adenosine deaminase (ADAR) gene. This study investigated 5 families and 3 sporadic patients with dyschromatosis symmetrica hereditaria in the Chinese Han population from Anhui province, China. By direct sequencing, 5 novel ADAR gene mutations (c.982C>T, c.1491insA,...
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