Novel and recurrent ATP2A2 mutations in Japanese patients with Darier’s disease

Darier’s disease (DD, keratosis follicularis: OMIM#124200) is an autosomal dominant skin disorder characterized by multiple dark brown keratotic plaques and warty papules covered by thick crusts. Most cases of DD are caused by mutations in ATP2A2, which is expressed in both the skin and the brain. A...

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Detalles Bibliográficos
Autores principales: Noda, Kana, Takeichi, Takuya, Okuno, Yusuke, Takama, Hiromichi, Miura, Shunsuke, Kagami, Shinji, Hino, Haruko, Nakamura, Yuki, Fujio, Yumi, Konohana, Izumi, Otani, Ayako, Mukai, Hideki, Sugiura, Kazumitsu, Akiyama, Masashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nagoya University 2016
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5159474/
https://www.ncbi.nlm.nih.gov/pubmed/28008204
http://dx.doi.org/10.18999/nagjms.78.4.485

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