Open AccessWhole-exome sequencing identifies novel mutations in genes responsible for retinitis pigmentosa in 2 nonconsanguineous Chinese families
Author(s) -
Yan-Shan Hu,
Hui Song,
Yin Li,
Zi-Yun Xiao,
Tuo Li
Publication year - 2019
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.2019.06.06
Subject(s) - sanger sequencing , exome sequencing , proband , medicine , retinitis pigmentosa , nonsense mutation , genetics , compound heterozygosity , mutation , fundus (uterus) , retinal degeneration , exome , ophthalmology , gene , retinal , biology , missense mutation
To detect the pathogenetic mutations responsible for nonsyndromic autosomal recessive retinitis pigmentosa (RP) in 2 nonconsanguineous Chinese families.