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

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

Abstract 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 BC...

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Autores principales: Satoshi Katagiri, Maki Iwasa, Takaaki Hayashi, Katsuhiro Hosono, Takahiro Yamashita, Kazuki Kuniyoshi, Shinji Ueno, Mineo Kondo, Hisao Ueyama, Hisakazu Ogita, Yoshinori Shichida, Hidehito Inagaki, Hiroki Kurahashi, Hiroyuki Kondo, Masahito Ohji, Yoshihiro Hotta, Tadashi Nakano
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2018
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/d2b4e4b53c8d4f56bc9d219b8c1394a3
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