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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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Wang, Chunxia, Hosono, Katsuhiro, Kachi, Shu, Suto, Kimiko, Nakamura, Makoto, Terasaki, Hiroko, Miyake, Yozo, Hotta, Yoshihiro, Minoshima, Shinsei
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4880642/
https://ncbi.nlm.nih.gov/pubmed/27274860
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.11
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