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Article

The ATP2A2 gene in patients with Darier's disease: one novel splicing mutation.

International journal of dermatology - 1 Sept 2012

Shi Bing-Jun, Xue Mei, Zhong Gui-Shu, Jiang Yang, Chen De-Yu, Feng Jie, Hao Jing, Diao Qing-Chun

Abstract excerpt

BACKGROUND: Darier's disease (DD) is a rare, inherited skin disorder characterized by warty papules and plaques over the seborrheic area, such as central trunk, flexures, scalp, and forehead. Mutations in ATP2A2 gene encoding the enzyme sarco/endoplasmic reticulum Ca(2+) ATPase type 2 are responsible for the disease. Here we report two Chinese families affected by DD with two ATP2A2 mutations. MATERIALS AND...

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PMID: 22909361
DOI: 10.1111/j.1365-4632.2012.05514.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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