机译:NDUFB8突变导致线粒体复合体,我缺乏Leigh样脑膜病变的个体
Childrens Mem Hlth Inst Dept Med Genet PL-04730 Warsaw Poland;
Hop Necker Enfants Malad Dept Genet F-75015 Paris France;
Salzburger Landeskliniken Dept Pediat A-5020 Salzburg Austria;
Salzburger Landeskliniken Dept Pediat A-5020 Salzburg Austria;
German Res Ctr Environm Hlth Helmholtz Zentrum Munchen Inst Human Genet D-85764 Neuherberg;
Childrens Mem Hlth Inst Dept Diagnost Imaging PL-04730 Warsaw Poland;
Med Univ Warsaw Dept Med Genet PL-02106 Warsaw Poland;
German Res Ctr Environm Hlth Helmholtz Zentrum Munchen Inst Human Genet D-85764 Neuherberg;
Salzburger Landeskliniken Dept Pediat A-5020 Salzburg Austria;
Inst Physiol &
Pathol Hearing Dept Genet PL-05830 Warsaw Poland;
Med Univ Warsaw Dept Med Genet PL-02106 Warsaw Poland;
Childrens Mem Hlth Inst Dept Med Genet PL-04730 Warsaw Poland;
Childrens Mem Hlth Inst Dept Med Genet PL-04730 Warsaw Poland;
Childrens Mem Hlth Inst Dept Audiol &
Phoniatr PL-04730 Warsaw Poland;
Childrens Mem Hlth Inst Dept Paediat Nutr &
Metab Dis PL-04730 Warsaw Poland;
Univ Paris 05 Sorbonne Paris Cite Inst Imagine INSERM U1163 F-75015 Paris France;
Salzburger Landeskliniken Dept Pediat A-5020 Salzburg Austria;
Salzburger Landeskliniken Dept Pediat A-5020 Salzburg Austria;
Univ Paris 05 Sorbonne Paris Cite Inst Imagine INSERM U1163 F-75015 Paris France;
German Res Ctr Environm Hlth Helmholtz Zentrum Munchen Inst Human Genet D-85764 Neuherberg;
Childrens Mem Hlth Inst Dept Med Genet PL-04730 Warsaw Poland;
Med Univ Warsaw Dept Med Genet PL-02106 Warsaw Poland;
Hop Necker Enfants Malad Dept Genet F-75015 Paris France;
Salzburger Landeskliniken Dept Pediat A-5020 Salzburg Austria;
机译:NDUFB8突变导致线粒体复合体,我缺乏Leigh样脑膜病变的个体
机译:由于铁载体柔铁蛋白4(SFXN4)突变而导致的复杂I型先天性线粒体脑病
机译:SDHD突变导致常染色体隐性遗传性脑病和孤立的线粒体复合体II缺乏症
机译:支持诊断在线粒体脑脊髓病中的应用
机译:由线粒体DNA(mtDNA)和核DNA(nDNA)突变引起的线粒体脑肌病的生化和遗传特征。
机译:NDUFB8突变导致线粒体复合体I缺乏症的类似L样脑病患者。
机译:NADH脱氢酶5基因中的线粒体DNA G13513A MELAS突变是Leigh-like综合征的常见原因,伴有孤立的复合体I缺乏