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...

Descripción completa

Detalles Bibliográficos
Autores principales: Kobayashi, Tomoko, Kono, Michihiro, Suganuma, Mutsumi, Akita, Hirotaka, Takai, Ayaka, Tsutsui, Kiyohiro, Inasaka, Yu, Takeichi, Takuya, Muro, Yoshinao, Akiyama, Masashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nagoya University 2018
Materias:
Original Paper
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

Internet

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

Ejemplares similares