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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Detalhes bibliográficos
Publicado no:Nagoya J Med Sci
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Nagoya University 2016
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Original Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5159474/
https://ncbi.nlm.nih.gov/pubmed/28008204
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18999/nagjms.78.4.485
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