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机译:MPV17 MPV17-相关的线粒体DNA维持缺陷:新病例和临床,生化和分子方面的审查
Division of Clinical Genetics and Metabolic DisordersTawam HospitalAl‐Ain United Arab Emirates;
Medical Scientist Training Program and Program in Developmental BiologyBaylor College of;
Department of Molecular and Human GeneticsBaylor College of MedicineHouston Texas;
Section of Medical GeneticsChildren's Specialist HospitalRiyadh Saudi Arabia;
Division of Neuropediatrics and Metabolic MedicineUniversity Hospital HeidelbergHeidelberg Germany;
King Abdullah International Medical Research CentreKing Saud bin Abdulaziz University for Health;
Division of Medical GeneticsEmory University School of MedicineAtlanta Georgia;
Department of Genetics and Genomic SciencesIcahn School of Medicine at Mount SinaiNew York New York;
Department of PediatricsSt John Hospital and Medical Center and Wayne State University School of;
Department of PediatricsSt John Hospital and Medical Center and Wayne State University School of;
Section of Medical GeneticsChildren's Specialist HospitalRiyadh Saudi Arabia;
Section of Medical GeneticsChildren's Specialist HospitalRiyadh Saudi Arabia;
Section of Medical GeneticsChildren's Specialist HospitalRiyadh Saudi Arabia;
King Faisal Specialist Hospital and Research CenterDepartment of Medical GeneticsRiyadh Saudi Arabia;
King Faisal Specialist Hospital and Research CenterDepartment of Medical GeneticsRiyadh Saudi Arabia;
Division of GeneticChildren's Hospital of Michigan and Wayne State UniversityDetroit Michigan;
Division of Clinical Genetics and Metabolic DisordersTawam HospitalAl‐Ain United Arab Emirates;
Division of Genetics and GenomicsBoston Children's HospitalBoston Massachusetts;
Division of Clinical and Translational GeneticsUniversity of Miami Miller School of MedicineMiami;
Department of MetabolismChiba Children's HospitalChiba Japan;
Division of GastroenterologyChildren's Hospital of PhiladelphiaPhiladelphia Pennsylvania;
Division of GastroenterologyChildren's Hospital of PhiladelphiaPhiladelphia Pennsylvania;
Department of Molecular and Human GeneticsBaylor College of MedicineHouston Texas;
mitochondrial DNA (mtDNA); MPV17; mtDNA depletion; mtDNA maintenance; multiple mtDNA deletions;
机译:MPV17 MPV17-相关的线粒体DNA维持缺陷:新病例和临床,生化和分子方面的审查
机译:临床,形态,生化,影像学和结局参数在21名与FBXL4突变相关的线粒体维持缺陷的患者中进行。
机译:先天性贫血症:分子缺陷以及生化和临床方面
机译:线粒体转录因子A在维持线粒体DNA中
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:由于MPV17基因的新突变导致线粒体DNA耗竭综合征的临床生化细胞和分子特征
机译:由于MPV17基因的新突变导致线粒体DNA耗竭综合征的临床,生化,细胞和分子特征
机译:DNa辐射损伤生化模型的分子数据:DNa碱基和糖磷酸骨架的电子碰撞电离和解离电离