Open AccessNovel mutations in PDE6B causing human retinitis pigmentosa
Author(s) -
Lulu Cheng,
Ru-Yi Han,
Fayu Yang,
Xinping Yu,
Jun Xu,
Qingjie Min,
Jie Tian,
Xianglian Ge,
Simin Zheng,
Ye-Wen Lin,
Yuqian Zheng,
Jia Qu,
Feng Gu
Publication year - 2016
Publication title -
international journal of ophthalmology
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.634
H-Index - 29
eISSN - 2227-4898
pISSN - 2222-3959
DOI - 10.18240/ijo.2016.08.02
Subject(s) - retinitis pigmentosa , nonsense , nonsense mutation , sanger sequencing , genetics , exome sequencing , compound heterozygosity , exome , mutation , medicine , gene , biology , missense mutation
To identify the genetic defects of a Chinese patient with sporadic retinitis pigmentosa (RP).