Article
Mutation analysis of the ATP2A2 gene in Taiwanese patients with Darier's disease.
The British journal of dermatology - 1 Jun 2002
Chao S-C, Yang M-H, Lee J Y-Y
Abstract excerpt
BACKGROUND: Darier's disease (DD) is an autosomal dominant skin disorder characterized by abnormal keratinization and acantholysis. Pathogenic mutations in the ATP2A2 gene encoding SERCA2, a calcium pump of the sarco/endoplasmic reticulum, have recently been identified. OBJECTIVES: To identify mutations of the ATP2A2 gene in Taiwanese patients with DD. METHODS: Mutation analysis of genomic DNA was performed on...
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