机译:线粒体苯丙氨酰-tRNA合成酶突变是致命的婴儿Alpers脑病的基础
1Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, 2Department of Pathology, 3Department of Medical Genetics, Haartman Institute and 4Institute for Molecular Medicine Finland (FIMM), University of Helsinki, 00290 Helsinki, Finland, 5Department of Microbiology and Center for RNA Biology, The Ohio State University, Columbus, OH, USA, 6Department of Pediatric Neurology, Hospital for Children and Adolescents, 7Medical Imaging Center and 8Department of Neurology, Helsinki University Central Hospital, 00029 Helsinki, Finland, 9Department of Genetics, King Faisal Specialist Hospital and Research Center and 10Department of Pediatrics, King Khalid University Hospital, College of Medicine, King Saud University, Riyadh, Saudi Arabia and 11Department of Anatomy;
机译:线粒体苯丙氨酰-trna合成酶突变是致命性婴儿阿尔卑斯脑病的基础
机译:完整的外显子组测序揭示了Alpers综合征患者的NARS2和PARS2突变,编码线粒体天冬酰胺基tRNA合成酶和脯氨酰tRNA合成酶
机译:人对苯甲醛 - TRNA合成酶的嗜血剂脑病相关突变体的生物物理表征
机译:婴儿脑病后疑似恶性综合征年的尸检病例
机译:线粒体DNA突变在少肌症中的作用:对线粒体“恶性循环”理论和细胞凋亡的影响。
机译:完整的外显子组测序揭示了患有Alpers综合征的患者的NARS2和PARS2突变编码线粒体天冬酰胺基-tRNA合成酶和脯氨酰-tRNA合成酶
机译:人体线粒体苯丙基-TRNA合成酶的吸血剂脑病相关突变体的生物物理表征