Associated Papers
Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration.
Yi Z et al.
Eye (london, England), 2022
Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.
Wang S et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2016
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.
Xu Y et al.
Experimental Eye Research, 2016
A novel missense NMNAT1 mutation identified in a consanguineous family with Leber congenital amaurosis by targeted next generation sequencing.
Deng Y et al.
Gene, 2015
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