Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families

Choroideremia (CHM) is an incurable progressive chorioretinal dystrophy. Little is known about the natural disease course of visual acuity in the Japanese population. We aimed to investigate the genetic spectrum of the CHM gene and visual acuity outcomes in 24 CHM patients from 16 Japanese families....

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Detalles Bibliográficos
Autores principales: Hayashi, Takaaki, Kameya, Shuhei, Mizobuchi, Kei, Kubota, Daiki, Kikuchi, Sachiko, Yoshitake, Kazutoshi, Mizota, Atsushi, Murakami, Akira, Iwata, Takeshi, Nakano, Tadashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7522719/
https://www.ncbi.nlm.nih.gov/pubmed/32985515
http://dx.doi.org/10.1038/s41598-020-72623-1

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