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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Hum Genome Var
Main Authors: Wang, Chunxia, Hosono, Katsuhiro, Kachi, Shu, Suto, Kimiko, Nakamura, Makoto, Terasaki, Hiroko, Miyake, Yozo, Hotta, Yoshihiro, Minoshima, Shinsei
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2016
Fag:
Data Report
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker