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Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria
Dyschromatosis symmetrica hereditaria (DSH) is one of the genetic pigmentation disorders and shows characteristic mixture of hyper- and hypo-pigmented small macules on the extremities. Heterozygous mutations in the adenosine deaminase acting on RNA1 gene (ADAR1) cause DSH. In the present study, we r...
Autores principales: | Kobayashi, Tomoko, Kono, Michihiro, Suganuma, Mutsumi, Akita, Hirotaka, Takai, Ayaka, Tsutsui, Kiyohiro, Inasaka, Yu, Takeichi, Takuya, Muro, Yoshinao, Akiyama, Masashi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nagoya University
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5995736/ https://www.ncbi.nlm.nih.gov/pubmed/29915444 http://dx.doi.org/10.18999/nagjms.80.2.267 |
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