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Eight novel mutations of ATP2C1 identified in 17 Chinese families with Hailey-Hailey disease.

Dermatology (Basel, Switzerland) - 1 Jan 2007

Zhang Furen, Yan Xiaoxiao, Jiang Deke, Tian Hongqing, Wang Changyuan, Yu Long

Abstract excerpt

BACKGROUND: Hailey-Hailey disease (HHD) is a rare autosomal dominantly inherited dermatosis, characterized by persistent blisters and erosions of the skin. It was recently discovered that HHD was caused by mutations in the ATP2C1 gene, a Ca2+ pump located in the Golgi apparatus. OBSERVATION: In this study, we sequenced the ATP2C1 gene from blood samples of 31 patients in 17 unrelated Chinese families and 120...

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PMID: 17911984
DOI: 10.1159/000107620

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

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