Article
Identification of mutation c.632G>A (p.G211D) in the ATP2A2 gene and genotype-phenotype correlation in a large Chinese family with Darier's disease.
International journal of dermatology - 1 Nov 2011
Lu Feng-Yan, Xu Ling, Yin Xun-Guo, Wan Ping, Zhang Xiao-De, Chen Wei-Wen, Ding Shao-Ping, Yao Yong-Gang
Abstract excerpt
Darier's disease (DD, MIM 124200) is an autosomal dominant inherited skin disease. Mutations in the ATP2A2 gene, which encoded the sarcoplasmic/endoplasmic reticulum Ca(2+) -ATPase isoform 2 (SERCA2), are responsible for this skin disorder. Here we report the clinical, genetic, and molecular characterization of a large Chinese family with DD. We identified mutation c.632G>A (p.G211D) in the ATP2A2 gene in this...
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