SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa

Retinitis pigmentosa (RP) shows progressive loss of photoreceptors involved with heterogeneous genetic background. Here, by exome sequencing and linkage analysis on a Chinese family with autosomal dominant RP, we identified a putative pathogenic variant, p.Gly97Arg, in the gene SPP2, of which expres...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Sci Rep
Prif Awduron: Liu, Yuan, Chen, Xue, Xu, Qihua, Gao, Xiang, Tam, Pancy O. S., Zhao, Kanxing, Zhang, Xiumei, Chen, Li Jia, Jia, Wenshuang, Zhao, Qingshun, Vollrath, Douglas, Pang, Chi Pui, Zhao, Chen
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2015
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4602186/
https://ncbi.nlm.nih.gov/pubmed/26459573
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep14867
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