Mutations in human IFT140 cause non-syndromic retinal degeneration

Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP) are two genetically heterogeneous retinal degenerative disorders. Despite the identification of a number of genes involved in LCA and RP, the genetic etiology remains unknown in many patients. In this study, we aimed to identify novel di...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hum Genet
Egile Nagusiak: Xu, Mingchu, Yang, Lizhu, Wang, Feng, Li, Huajin, Wang, Xia, Wang, Weichen, Ge, Zhongqi, Wang, Keqing, Zhao, Li, Li, Hui, Li, Yumei, Sui, Ruifang, Chen, Rui
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2015
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4565766/
https://ncbi.nlm.nih.gov/pubmed/26216056
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-015-1586-x
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak