CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability

Leber congenital amaurosis (LCA) is a hereditary early-onset retinal dystrophy that is accompanied by severe macular degeneration. In this study, novel compound heterozygous mutations were identified as LCA-causative in chaperonin-containing TCP-1, subunit 2 (CCT2), a gene that encodes the molecular...

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Publicat a:Sci Rep
Autors principals: Minegishi, Yuriko, Sheng, XunLun, Yoshitake, Kazutoshi, Sergeev, Yuri, Iejima, Daisuke, Shibagaki, Yoshio, Monma, Norikazu, Ikeo, Kazuho, Furuno, Masaaki, Zhuang, Wenjun, Liu, Yani, Rong, Weining, Hattori, Seisuke, Iwata, Takeshi
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2016
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5028737/
https://ncbi.nlm.nih.gov/pubmed/27645772
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep33742
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