Publication | Closed Access

A novel missense NMNAT1 mutation identified in a consanguineous family with Leber congenital amaurosis by targeted next generation sequencing

Mendelian DisorderGenetic DisorderMedicineGeneticsPathologyMolecular GeneticsConsanguineous FamilyDisease Gene IdentificationGenomicsTargeted Next GenerationLeber Congenital AmaurosisMolecular DiagnosticsSequencing