Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy

Blue cone monochromacy (BCM) is caused by the lack of expression of the normal proteins encoded by the OPN1LW and OPN1MW genes, resulting in the absence of red and green cone sensitivities. We analyzed two cases of BCM in two different families and identified deletion mutations in the locus control...

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Detalles Bibliográficos
Autores principales: Wang, Chunxia, Hosono, Katsuhiro, Kachi, Shu, Suto, Kimiko, Nakamura, Makoto, Terasaki, Hiroko, Miyake, Yozo, Hotta, Yoshihiro, Minoshima, Shinsei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880642/
https://www.ncbi.nlm.nih.gov/pubmed/27274860
http://dx.doi.org/10.1038/hgv.2016.11

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880642/
https://www.ncbi.nlm.nih.gov/pubmed/27274860
http://dx.doi.org/10.1038/hgv.2016.11

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