Malattia Leventinese: EFEMP1 R345W Variant Is a Hot Spot Mutation, Not a Founder Mutation

Ophthalmol Retina. 2020 Oct;4(10):1023. doi: 10.1016/j.oret.2020.04.015.

¹ University of Lausanne, Jules Gonin Eye Hospital, Oculogenetic Unit, and Hospital Cantonal de Fribourg, Ophthalmology Department, HFR, Fribourg, Switzerland; University of Lausanne, Jules Gonin Eye Hospital, Oculogenetic unit, Lausanne, Switzerland.
² University of Lausanne, Jules Gonin Eye Hospital, Oculogenetic Unit, and Hospital Cantonal de Fribourg, Ophthalmology Department, HFR, Fribourg, Switzerland.
³ Institute for Research in Ophthalmology, Sion; Department of Ophthalmology, University of Lausanne and Faculty of Life Sciences, Ecole Polytechnique federal de Lausanne, Switzerland.

No abstract available

Publication types