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...

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Detalhes bibliográficos
Publicado no:Nagoya J Med Sci
Main Authors: Kobayashi, Tomoko, Kono, Michihiro, Suganuma, Mutsumi, Akita, Hirotaka, Takai, Ayaka, Tsutsui, Kiyohiro, Inasaka, Yu, Takeichi, Takuya, Muro, Yoshinao, Akiyama, Masashi
Formato: Artigo
Idioma:Inglês
Publicado em: Nagoya University 2018
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Original Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5995736/
https://ncbi.nlm.nih.gov/pubmed/29915444
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18999/nagjms.80.2.267
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