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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Bibliographic Details
Published in:Sci Rep
Main Authors: Hayashi, Takaaki, Kameya, Shuhei, Mizobuchi, Kei, Kubota, Daiki, Kikuchi, Sachiko, Yoshitake, Kazutoshi, Mizota, Atsushi, Murakami, Akira, Iwata, Takeshi, Nakano, Tadashi
Format: Artigo
Language:Inglês
Published: Nature Publishing Group UK 2020
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7522719/
https://ncbi.nlm.nih.gov/pubmed/32985515
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-72623-1
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