Article
Five major sequence variants and copy number variants in the EYS gene account for one-third of Japanese patients with autosomal recessive and simplex retinitis pigmentosa.
Molecular vision - 1 Jan 2019
Iwanami Masaki, Oishi Akio, Ogino Ken, Seko Yuko, Nishida-Shimizu Tomomi, Yoshimura Nagahisa, Kato Seishi
Abstract excerpt
Purpose: To elucidate the variant spectrum of the EYS gene in a large cohort of Japanese patients with autosomal recessive and simplex retinitis pigmentosa (arRP and sRP). Methods: We performed a direct sequencing analysis of 44 exons of the EYS gene in 469 patients with RP (including 144 arRP, 288 sRP, and 17 autosomal dominant RP (adRP) cases) in eastern and western regions of Japan and a multiplex...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.