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Article

Identification of several mutations in ATP2C1 in Lebanese families: insight into the pathogenesis of Hailey-Hailey disease.

PloS one - 1 Jan 2015

Btadini Waed, Abou Hassan Ossama K, Saadeh Dana, Abbas Ossama, Ballout Farah, Kibbi Abdul-Ghani, Dbaibo Ghassan, Darwiche Nadine, Nemer Georges, Kurban Mazen

Abstract excerpt

BACKGROUND: Hailey-Hailey disease (HHD) is an inherited blistering dermatosis characterized by recurrent erosions and erythematous plaques that generally manifest in intertriginous areas. Genetically, HHD is an autosomal dominant disease, resulting from heterozygous mutations in ATP2C1, which encodes a Ca2+/Mn2+ATPase. In this study, we aimed at identifying and analyzing mutations in five patients from unrelated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25658765
DOI: 10.1371/journal.pone.0115530
PMCID: PMC4319924

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