Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals
病例报告：DNAJC30基因突变导致常染色体隐性遗传性Leber遗传性视神经病变在东欧人群中较为常见
期刊:Frontiers in Neurology
影响因子:2.8
doi:10.3389/fneur.2023.1292320
Major, Toby Charles; Arany, Eszter Sara; Schon, Katherine; Simo, Magdolna; Karcagi, Veronika; van den Ameele, Jelle; Yu Wai Man, Patrick; Chinnery, Patrick F; Olimpio, Catarina; Horvath, Rita
