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Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

✍ Scribed by Chiang, Pei-Wen; Wang, Juan; Chen, Yang; Fu, Quan; Zhong, Jing; Chen, Yanhua; Yi, Xin; Wu, Renhua; Gan, Haixue; Shi, Yong; Chen, Yanling; Barnett, Christopher; Wheaton, Dianna; Day, Megan; Sutherland, Joanne; Heon, Elise; Weleber, Richard G; Gabriel, Luis Alexandre Rassi; Cong, Peikuan; Chuang, KuangHsiang; Ye, Sheng; Sallum, Juliana Maria Ferraz; Qi, Ming

Book ID
118048095
Publisher
Nature Publishing Group
Year
2012
Tongue
English
Weight
217 KB
Volume
44
Category
Article
ISSN
1061-4036

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It has been well documented that mutations in the same retinal disease gene can result in different clinical phenotypes due to difference in the mutant allele and/or genetic background. To evaluate this, a set of consanguineous patient families with Leber congenital amaurosis (LCA) that do not carry