Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa

Retinitis pigmentosa (RP) is an inheritable retina degenerative disease leading to blindness. Despite the identification of 70 genes associated with RP, the genetic cause of ∼40% of RP patients remains to be elucidated. Whole-exome sequencing was applied on the probands of a RP cohort of 68 unsolved...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Zhang, Lin, Sun, Zixi, Zhao, Peiquan, Huang, Lulin, Xu, Mingchu, Yang, Yeming, Chen, Xue, Lu, Fang, Zhang, Xiang, Wang, Hui, Zhang, Shanshan, Liu, Wenjing, Jiang, Zhilin, Ma, Shi, Chen, Rui, Zhao, Chen, Yang, Zhenglin, Sui, Ruifang, Zhu, Xianjun
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2018
Assuntos:
Association Studies Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6240732/
https://ncbi.nlm.nih.gov/pubmed/30085091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy281
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