Open AccessNovel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing
Author(s) -
Xiaoqiang Xiao,
Yingjie Cao,
Zhun Zhang,
Yanxuan Xu,
Yuqian Zheng,
Li Jia Chen,
Chi Pui Pang,
Haoyu Chen
Publication year - 2017
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.17-22952
Subject(s) - green fluorescent protein , microbiology and biotechnology , frameshift mutation , mutation , mutant , exome sequencing , biology , gene , retinitis pigmentosa , genetics
The purpose of this study was to investigate the disease-causing mutations for retinitis pigmentosa (RP) patients and function of mutations.
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