Article
Seven novel mutations in the ATP2A2 gene of Austrian patients with Darier's disease.
Archives of dermatological research - 1 Jul 2011
Klausegger A, Nischler E, Wagner R N, Pletschacher F, Hintner H, Bauer Johann W
Abstract excerpt
Darier's disease (DD, OMIM 124200) is an autosomal dominant inherited genodermatosis characterized by warty papules and plaques in seborrheic areas, and loss of adhesion between suprabasal epidermal keratinocytes (acantholysis) and abnormal keratinisation (dyskeratosis). Till date, more than 150 pathogenic mutations in the ATP2A2 (SERCA2) gene, which encodes the sarcoplasmic/endoplasmic reticulum Ca(2+) ATPase...
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