NMNAT1 mutations cause Leber congenital amaurosis

Leber congenital amaurosis (LCA) is an infantile-onset form of inherited retinal degeneration characterized by severe vision loss(1, 2). Two-thirds of LCA cases are caused by mutations in 17 known disease genes(3) (RetNet Retinal Information Network). Using exome sequencing, we identified a homozygo...

Полное описание

Сохранить в:
Библиографические подробности
Главные авторы: Falk, Marni J, Zhang, Qi, Nakamaru-Ogiso, Eiko, Kannabiran, Chitra, Fonseca-Kelly, Zoe, Chakarova, Christina, Audo, Isabelle, Mackay, Donna S, Zeitz, Christina, Borman, Arundhati Dev, Staniszewska, Magdalena, Shukla, Rachna, Palavalli, Lakshmi, Mohand-Said, Saddek, Waseem, Naushin H, Jalali, Subhadra, Perin, Juan C, Place, Emily, Ostrovsky, Julian, Xiao, Rui, Bhattacharya, Shomi S, Consugar, Mark, Webster, Andrew R, Sahel, José-Alain, Moore, Anthony T, Berson, Eliot L, Liu, Qin, Gai, Xiaowu, Pierce, Eric A.
Формат: Artigo
Язык:Inglês
Опубликовано: 2012
Предметы:
Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3454532/
https://ncbi.nlm.nih.gov/pubmed/22842227
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2361
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы