Article
ATP2C1 gene mutation analysis in Italian patients with Hailey-Hailey disease.
The Journal of investigative dermatology - 1 Nov 2005
Majore Silvia, Biolcati Gianfranco, Barboni Luana, Cannistraci Carlo, Binni Francesco, Crisi Alessandra, Picardo Mauro, Grammatico Paola
Abstract excerpt
Hailey-Hailey disease (HHD) is a rare autosomal dominant disorder characterized by recurrent skin lesions predominantly involving the body folds. It is caused by heterozygous mutations in the ATP2C1 gene, encoding the human secretory pathway Ca2+/Mn2+-ATPase protein 1 (hSPCA1). In this report we describe the molecular studies performed in eight HHD cases from Italy that led us to identify six different mutations...
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