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

Hereditary retinal degenerations (HRDs) are Mendelian diseases characterized by progressive blindness and caused by ultra-rare mutations. In a genomic screen of 331 unrelated Japanese patients, we identify a disruptive Alu insertion and a nonsense variant (p.Arg1933*) in the ciliary gene RP1, neithe...

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Detalles Bibliográficos
Autores principales: Nikopoulos, Konstantinos, Cisarova, Katarina, Quinodoz, Mathieu, Koskiniemi-Kuendig, Hanna, Miyake, Noriko, Farinelli, Pietro, Rehman, Atta Ur, Khan, Muhammad Imran, Prunotto, Andrea, Akiyama, Masato, Kamatani, Yoichiro, Terao, Chikashi, Miya, Fuyuki, Ikeda, Yasuhiro, Ueno, Shinji, Fuse, Nobuo, Murakami, Akira, Wada, Yuko, Terasaki, Hiroko, Sonoda, Koh-Hei, Ishibashi, Tatsuro, Kubo, Michiaki, Cremers, Frans P. M., Kutalik, Zoltán, Matsumoto, Naomichi, Nishiguchi, Koji M., Nakazawa, Toru, Rivolta, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6599023/
https://www.ncbi.nlm.nih.gov/pubmed/31253780
http://dx.doi.org/10.1038/s41467-019-10746-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6599023/
https://www.ncbi.nlm.nih.gov/pubmed/31253780
http://dx.doi.org/10.1038/s41467-019-10746-4

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