Article
Molecular characterization of 11 Italian patients with Darier disease.
European journal of dermatology : EJD - 1 Jan 2000
Pedace Lucia, Barboni Luana, Pozzetto Erika, Amantea Ada, Zambruno Giovanna, Preziosi Nicoletta, Benedicenti Francesco, Boni Stefania, De Brasi Davide, Panetta Chiara, Ferraro Carmela, De Bernardo Carmelilia, Castori Marco, Grammatico Paola
Abstract excerpt
Darier disease (DD) is an autosomal dominant genodermatosis characterized by multiple warty papules coalescing in seborrheic areas and specific histological skin changes. Heterozygous mutations in ATP2A2, encoding the sarco-endoplasmic reticulum calcium pumping ATPase type 2, are identified as the molecular basis of DD. In this study, molecular features in a large cohort of Italian patients are reported....
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