DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy
中欧大量疑似莱伯氏遗传性视神经病变和视神经萎缩患者中存在 DNAJC30 致病基因变异
期刊:Journal of Medical Genetics
影响因子:3.5
doi:10.1136/jmedgenet-2021-108235
Sinja Kieninger #, Ting Xiao #, Nicole Weisschuh, Susanne Kohl, Klaus Rüther, Peter Michael Kroisel, Tobias Brockmann, Steffi Knappe, Ulrich Kellner, Wolf Lagrèze, Pascale Mazzola, Tobias B Haack, Bernd Wissinger, Felix Tonagel0