NMNAT1 variants cause cone and cone-rod dystrophy

Nash, BM; Symes, R; Goel, H; Dinger, ME; Bennetts, B; Grigg, JR; Jamieson, RV

Jamieson, RV (reprint author), Univ Sydney, Childrens Med Res Inst, Childrens Hosp Westmead, Save Sight Inst,Eye Genet Res, Sydney, NSW, Australia.; Jamieson, RV (reprint author), Univ Sydney, Sydney Med Sch, Discipline Genet Med, Sydney, NSW, Australia.;

EUROPEAN JOURNAL OF HUMAN GENETICS, 2018; 26 (3): 428

Abstract

Cone and cone-rod dystrophies (CD and CRD, respectively) are degenerative retinal diseases that predominantly affect the cone photoreceptors. The unde......

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