Article
A novel splice-site mutation of ATP2A2 gene in a Chinese family with Darier disease.
Archives of dermatological research - 1 Dec 2010
Huo Jia, Liu Yan, Ma Junhong, Xiao Shengxiang
Abstract excerpt
Darier disease (DD; OMIM 124200) is a rare, autosomal dominant hereditary skin disorder characterized by abnormal keratinization and acantholysis. The causes of DD are defects in the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca(2+) ATPase isoform 2 (SERCA2). The aim of this study was to report a novel splice-site mutation and to examine the relative quantity expression of ATP2A2 gene in a Chinese...
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