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Article

Darier disease in Slovenia: spectrum of ATP2A2 mutations and relation to patients' phenotypes.

European journal of dermatology : EJD - 1 Jan 2000

Godic Aleksandar, Strazisar Mojca, Zupan Andrej, Korosec Branka, Kansky Aleksej, Glavac Damjan

Abstract excerpt

ATP2A2 encodes the sarco/endoplasmic reticulum Ca2+- ATPase (SERCA2) and has been identified as a defective gene in Darier disease (DD). It is an autosomal dominant genodermatosis, which is characterized by loss of adhesion between suprabasal epidermal keratinocytes (acantholysis) and abnormal keratinization (dyskeratosis). We examined 28 Slovenian patients with DD (the cohort of patients represents over 50% of...

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Identifiers

PMID: 20423818
DOI: 10.1684/ejd.2010.0913

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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