ADIPOR1 is mutated in syndromic retinitis pigmentosa

Retinitis pigmentosa (RP) is a genetically heterogeneous retinal disorder. Despite the numerous genes associated with RP already identified, the genetic basis remains unknown in a substantial number of patients and families. In this study, we performed whole exome sequencing to investigate the molec...

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Podrobná bibliografie
Vydáno v:Hum Mutat
Hlavní autoři: Xu, Mingchu, Eblimit, Aiden, Wang, Jing, Li, Jianli, Wang, Feng, Zhao, Li, Wang, Xia, Xiao, Ningna, Li, Yumei, Wong, Lee-Jun C., Lewis, Richard A., Chen, Rui
Médium: Artigo
Jazyk:Inglês
Vydáno: 2016
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5383450/
https://ncbi.nlm.nih.gov/pubmed/26662040
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22940
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