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Article

Spectrum of novel ATP2A2 mutations in patients with Darier's disease.

Human molecular genetics - 1 Sept 1999

Sakuntabhai A, Burge S, Monk S, Hovnanian A

Abstract excerpt

Darier's disease (DD) is an autosomal dominantly inherited skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Recently, we identified ATP2A2 encoding the sarco/endoplasmic reticulum Ca(2+)ATPase isoform 2 as the defective gene in DD. Now we report a spectrum of ATP2A2 mutations in 19 families and six sporadic cases with DD and investigate...

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Identifiers

PMID: 10441323
DOI: 10.1093/hmg/8.9.1611

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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