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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Enregistré dans:
Détails bibliographiques
Publié dans:Hum Genome Var
Auteurs principaux: Wang, Chunxia, Hosono, Katsuhiro, Kachi, Shu, Suto, Kimiko, Nakamura, Makoto, Terasaki, Hiroko, Miyake, Yozo, Hotta, Yoshihiro, Minoshima, Shinsei
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2016
Sujets:
Data Report
Accès en ligne: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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