Associated Papers
Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.
Skorczyk-Werner A et al.
Journal of Applied Genetics, 2023
Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants.
Sasaki Y et al.
The Journal of Biological Chemistry, 2015
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
Chiang PW et al.
Nature Genetics, 2012
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