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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Pubblicato in:Sci Rep
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2018
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Article
Accesso online: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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