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Article

P160L mutation in the Ca(2+) ATPase 2A domain in a patient with severe Darier disease.

Dermatology (Basel, Switzerland) - 1 Jan 2004

Godic Aleksandar, Glavac Damjan, Korosec Branka, Miljković Jovan, Potocnik Marko, Kansky Aleksej

Abstract excerpt

Darier disease (DD) is caused by mutations of the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca(2+)-ATPase isoform 2 (SERCA2). The mutations affect protein expression, degradation and activity. We report a patient with severe sporadic DD, who did not respond adequately to repeated...

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Identifiers

PMID: 15316170
DOI: 10.1159/000079600

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15316170-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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