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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6068165/
https://www.ncbi.nlm.nih.gov/pubmed/30065301
http://dx.doi.org/10.1038/s41598-018-29891-9

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