机译:ISCA2 ISCA2中的功能突变扰乱4FE-4S群机械,导致高血糖血症和MTDNA耗尽的致命性白科萎缩
Department of Molecular and Human GeneticsBaylor College of MedicineHouston Texas;
Department of Molecular and Human GeneticsBaylor College of MedicineHouston Texas;
Wellcome Centre for Mitochondrial ResearchNewcastle UniversityNewcastle upon Tyne Tyne and Wear UK;
Royal Victoria InfirmaryGreat North Children's HospitalNewcastle upon Tyne Newcastle Upon Tyne UK;
Department of Molecular and Human GeneticsBaylor College of MedicineHouston Texas;
Division of Genetics &
MetabolismChildren's National Health SystemWashington District of Columbia;
Division of Genetics &
MetabolismChildren's National Health SystemWashington District of Columbia;
Wellcome Centre for Mitochondrial ResearchNewcastle UniversityNewcastle upon Tyne Tyne and Wear UK;
Wellcome Centre for Mitochondrial ResearchNewcastle UniversityNewcastle upon Tyne Tyne and Wear UK;
Department of Molecular and Human GeneticsBaylor College of MedicineHouston Texas;
encephalopathy; Fe‐S clusters; hyperglycinemia; ISCA2; leukodystrophy; mitochondrial dysfunction;
机译:ISCA2 ISCA2中的功能突变扰乱4FE-4S群机械,导致高血糖血症和MTDNA耗尽的致命性白科萎缩
机译:胸苷激酶2中的两个新突变导致早期致命性脑脊髓病和严重的mtDNA耗竭
机译:铁硫簇装配基因IBA57的突变导致致命的婴儿白细胞营养不良
机译:ISCA2的功能丧失突变破坏4Fe-4S簇机制并导致致命性白细胞营养不良伴有高血糖症和mtDNA消耗
机译:AP4S1中的隐性功能突变引起通过AP-4复杂组件的损失引起轻度发热敏感性癫痫发作,发育延迟和痉挛性截瘫