Malattia Leventinese: EFEMP1 R345W Variant Is a Hot Spot Mutation, Not a Founder Mutation.
作者信息
Vaclavik Veronika, Tran Hoai Viet, Schorderet Md PhD Daniel F
机构信息
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.
University of Lausanne, Jules Gonin Eye Hospital, Oculogenetic Unit, and Hospital Cantonal de Fribourg, Ophthalmology Department, HFR, Fribourg, Switzerland.
出版信息
Ophthalmol Retina. 2020 Oct;4(10):1023. doi: 10.1016/j.oret.2020.04.015.
PMID:33019987
Abstract
摘要
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