A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

Genetic variants in RP1 can cause hereditary retinal degeneration (HRD). Here, in a genomic screen of 331 Japanese HRD patients, the authors identify a near-polymorphic RP1 variant that causes Mendelian HRD in trans with an Alu insertion and otherwise is associated with HRD according to a complex mo...

Full description

Saved in:

Bibliographic Details
Main Authors:	Konstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz, Hanna Koskiniemi-Kuendig, Noriko Miyake, Pietro Farinelli, Atta Ur Rehman, Muhammad Imran Khan, Andrea Prunotto, Masato Akiyama, Yoichiro Kamatani, Chikashi Terao, Fuyuki Miya, Yasuhiro Ikeda, Shinji Ueno, Nobuo Fuse, Akira Murakami, Yuko Wada, Hiroko Terasaki, Koh-Hei Sonoda, Tatsuro Ishibashi, Michiaki Kubo, Frans P. M. Cremers, Zoltán Kutalik, Naomichi Matsumoto, Koji M. Nishiguchi, Toru Nakazawa, Carlo Rivolta
Format:	article
Language:	EN
Published:	Nature Portfolio 2019
Subjects:	Science Q
Online Access:	https://doaj.org/article/537687cf25cf49f1921e6233fca5ffb9
Tags:	Add Tag No Tags, Be the first to tag this record!

Be the first to leave a comment!

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

Similar Items