Open AccessA novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer
Author(s) -
Yu Zheng,
Hailin Wang,
Jiankang Li,
Li Xu,
Laurent C. A. M. Tellier,
Xiaolin Li,
Xiaoyan Huang,
Wei Li,
Tongtong Niu,
Huanming Yang,
Jianguo Zhang,
Dongning Liu
Publication year - 2018
Publication title -
international journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.634
H-Index - 29
eISSN - 2227-4898
pISSN - 2222-3959
DOI - 10.18240/ijo.2018.01.06
Subject(s) - retinitis pigmentosa , sanger sequencing , genetics , proband , 1000 genomes project , genotype , genome , dna sequencing , biology , gene , mutation , single nucleotide polymorphism
To study the genes responsible for retinitis pigmentosa.
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