Novel missense mutations in PRPF6 cause autosomal dominant retinitis pigmentosa with incomplete penetrance and impairment of PRPF6 protein localization within the nucleus

Autor: Guillaume, Olivier, Bocquet, Béatrice, Rivolta, Carlo, Andreo, Ervann, Muller, Agnès, Hamel, Christian, Masurel, Alice, Creuzot-Garcher, Catherine P., Faivre, Laurence, Meunier, Isabelle Anne, Manes, Gael

Publikováno v: Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology (ARVO)
Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology (ARVO), Assoc Research Vision Ophthalmology Inc., Rockville (United States), May 2020, San Francisco, France. pp.2401

International audience; Purpose : To characterize clinically and genetically two families with autosomal dominant retinitis pigmentosa (adRP) with new causative mutations in PRPF6, a gene described to be associated with this condition in a single stu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::35807f56f387cc01a883bd57654ee50d
https://hal.inrae.fr/hal-02952248