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机译:在抗类固醇肾病综合征ALTER COQ8B功能患者中发现的COQ8B(ADCK4)中的突变
Clinical Genetics UnitIRP Città della Speranza University of PadovaPadova Italy;
Clinical Genetics UnitIRP Città della Speranza University of PadovaPadova Italy;
Clinical Genetics UnitIRP Città della Speranza University of PadovaPadova Italy;
Clinical Genetics UnitIRP Città della Speranza University of PadovaPadova Italy;
Clinical Genetics UnitIRP Città della Speranza University of PadovaPadova Italy;
Clinical Genetics UnitIRP Città della Speranza University of PadovaPadova Italy;
Clinical Genetics UnitIRP Città della Speranza University of PadovaPadova Italy;
Division of Nephrology Department of Medicine Boston Children's HospitalHarvard Medical;
Division of Nephrology Department of Medicine Boston Children's HospitalHarvard Medical;
Department of Biomedical SciencesUniversity of PadovaPadova Italy;
Centro Andaluz de Biología del DesarrolloCIBERER Instituto de Salud Carlos IIISeville Spain;
Clinical Genetics UnitIRP Città della Speranza University of PadovaPadova Italy;
Clinical Genetics UnitIRP Città della Speranza University of PadovaPadova Italy;
coenzyme Q deficiency; steroid‐resistant nephrotic syndrome; yeast; COQ8B; mitochondrial nephropathy;
机译:在抗类固醇肾病综合征ALTER COQ8B功能患者中发现的COQ8B(ADCK4)中的突变
机译:CRB2在足细胞中的改变表达扩增了类固醇耐药综合征中CRB2突变的变异
机译:大量类固醇抵抗和类固醇敏感性肾病综合征患者WT1突变的患病率
机译:新加坡巴鲁达综合征患者SCN5A基因突变的谱
机译:患有新型巨脑综合征的患者的MYCN de novo功能获得性突变
机译:类固醇抵抗性肾病综合征患者发现COQ8B(ADCK4)突变会改变COQ8B功能
机译:在抗类固醇肾病综合征ALTER COQ8B功能患者中发现的COQ8B(ADCK4)中的突变