Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation
纯合 YME1L1 突变导致线粒体病,伴有视神经萎缩和线粒体网络碎片化
期刊:Elife
影响因子:6.4
doi:10.7554/eLife.16078
Bianca Hartmann, Timothy Wai, Hao Hu, Thomas MacVicar, Luciana Musante, Björn Fischer-Zirnsak, Werner Stenzel, Ralph Gräf, Lambert van den Heuvel, Hans-Hilger Ropers, Thomas F Wienker, Christoph Hübner, Thomas Langer, Angela M Kaindl