Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy

Blue cone monochromacy (BCM) is characterized by loss of function of both OPN1LW (the first) and OPN1MW (the downstream) genes on the X chromosome. The purpose of this study was to investigate the first and downstream genes in the OPN1LW/OPN1MW array in four unrelated Japanese males with BCM. In Cas...

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Publicado no:Sci Rep
Main Authors: Katagiri, Satoshi, Iwasa, Maki, Hayashi, Takaaki, Hosono, Katsuhiro, Yamashita, Takahiro, Kuniyoshi, Kazuki, Ueno, Shinji, Kondo, Mineo, Ueyama, Hisao, Ogita, Hisakazu, Shichida, Yoshinori, Inagaki, Hidehito, Kurahashi, Hiroki, Kondo, Hiroyuki, Ohji, Masahito, Hotta, Yoshihiro, Nakano, Tadashi
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6068165/
https://ncbi.nlm.nih.gov/pubmed/30065301
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-29891-9
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