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Screening for SLC7A14 gene mutations in patients with autosomal recessive or sporadic retinitis pigmentosa
2016
Figshare
Purpose: In this study, we aimed to detect mutations in the SLC7A14 cationic transporter gene, which has recently been reported as a causative gene for retinitis pigmentosa (RP), in Japanese patients with autosomal recessive (AR) or sporadic RP. Materials and Methods: We included 146 unrelated Japanese patients with AR or sporadic RP who lacked mutations in genes known to be associated with RP despite next-generation sequencing-based screening. We sequenced the seven SLC7A14 coding exons along
doi:10.6084/m9.figshare.3141589.v1
fatcat:ml3zlrrjqvcb7fpf6ormd7uoqa