Molecular genetics of cone-rod dystrophy in Chinese patients: new data from 61 probands and mutation overview of 163 probands
L Huang, X Xiao, S Li, X Jia, P Wang, W Sun… - Experimental eye …, 2016 - Elsevier
Cone-rod dystrophy (CORD) is a common form of inherited retinal degeneration. Previously,
we have conducted serial mutational analysis in probands with CORD either by Sanger
sequencing or whole exome sequencing (WES). In the current study, variants in all genes
from RetNet were selected from the whole exome sequencing data of 108 CORD probands
(including 61 probands reported here for the first time) and were analyzed by multistep
bioinformatics analysis, followed by Sanger sequencing and segregation validation. Data …
we have conducted serial mutational analysis in probands with CORD either by Sanger
sequencing or whole exome sequencing (WES). In the current study, variants in all genes
from RetNet were selected from the whole exome sequencing data of 108 CORD probands
(including 61 probands reported here for the first time) and were analyzed by multistep
bioinformatics analysis, followed by Sanger sequencing and segregation validation. Data …