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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Sci Rep
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2015
Ämnen:
Article
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk