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...

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Detalhes bibliográficos
Publicado no:Hum Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha: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
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