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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Bibliografske podrobnosti
izdano v: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
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group UK 2018
Teme:
Article
Online dostop: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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