Novel mutations in PDE6B causing human retinitis pigmentosa

AIM: To identify the genetic defects of a Chinese patient with sporadic retinitis pigmentosa(RP).METHODS: Ophthalmologic examinations were performed on the sporadic RP patient, 144 genes associated with retinal diseases were scanned with capture next generation sequencing(CNGS) approach.Two heterozy...

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Veröffentlicht in:	International journal of ophthalmology 2016-08, Vol.9 (8), p.1094-1099
Hauptverfasser:	Cheng, Lu-Lu, Han, Ru-Yi, Yang, Fa-Yu, Yu, Xin-Ping, Xu, Jin-Ling, Min, Qing-Jie, Tian, Jie, Ge, Xiang-Lian, Zheng, Si-Si, Lin, Ye-Wen, Zheng, Yi-Han, Qu, Jia, Gu, Feng
Format:	Artikel
Sprache:	eng
Schlagworte:	Basic Research compound generation heterozygosity retinitis next pigmentosa mutation capture sequencing PDE6B
Online-Zugang:	Volltext
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