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...

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Bibliografiset tiedot
Julkaisussa:Hum Mol Genet
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2015
Aiheet:
Articles
Linkit: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
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