Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina

Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are severe hereditary diseases that causes visual impairment in infants and children. SPATA7 has recently been identified as the LCA3 and juvenile RP gene in humans, whose function in the retina remains elusive. Here, we show th...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Eblimit, Aiden, Nguyen, Thanh-Minh T., Chen, Yiyun, Esteve-Rudd, Julian, Zhong, Hua, Letteboer, Stef, Van Reeuwijk, Jeroen, Simons, David L., Ding, Qian, Wu, Ka Man, Li, Yumei, Van Beersum, Sylvia, Moayedi, Yalda, Xu, Huidan, Pickard, Patrick, Wang, Keqing, Gan, Lin, Wu, Samuel M., Williams, David S., Mardon, Graeme, Roepman, Ronald, Chen, Rui
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
Assuntos:
Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4351378/
https://ncbi.nlm.nih.gov/pubmed/25398945
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu573
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados