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机译:等位基因表达不平衡促进突变体PEX6等位基因导致Zellweger谱紊乱
Laboratory Genetic Metabolic Diseases Academic Medical Center University of Amsterdam Amsterdam;
Department of Pediatrics and Human Genetics Research Institute of the McGill University Health;
Kennedy Krieger Institute Baltimore MD 21205 USA;
Institute of Genetic Medicine and Department of Neurology Johns Hopkins University School of;
Laboratory Genetic Metabolic Diseases Academic Medical Center University of Amsterdam Amsterdam;
Neurometabolic Diseases Laboratory Institute of Neuropathology IDIBELL Barcelona 08908 Spain;
Neurometabolic Diseases Laboratory Institute of Neuropathology IDIBELL Barcelona 08908 Spain;
Neurometabolic Diseases Laboratory Institute of Neuropathology IDIBELL Barcelona 08908 Spain;
Centre for Inherited Metabolic Diseases Karolinska University Hospital Stockholm 171 77 Sweden;
Centre for Inherited Metabolic Diseases Karolinska University Hospital Stockholm 171 77 Sweden;
Department of Pediatrics University of Groningen University Medical Center Groningen Beatrix;
Department of Pediatrics Maastricht University Medical Center Maastricht 6211 LK the Netherlands;
Department of Pediatrics Maastricht University Medical Center Maastricht 6211 LK the Netherlands;
Laboratory Genetic Metabolic Diseases Academic Medical Center University of Amsterdam Amsterdam;
Laboratory Genetic Metabolic Diseases Academic Medical Center University of Amsterdam Amsterdam;
Laboratory Genetic Metabolic Diseases Academic Medical Center University of Amsterdam Amsterdam;
peroxisome; peroxisome biogenesis disorder; peroxisomal disorder; metabolic; dominant-negative; PEX1; PEX6;
机译:等位基因表达不平衡促进突变体PEX6等位基因导致Zellweger谱紊乱
机译:帕金森病的α-突触核蛋白野生型和p.Ala53Thr等位基因内表达和表观遗传调控的等位基因失衡。
机译:Zellweger谱紊乱患者衍生的成纤维细胞与PEX1-GLY843ASP等位基因响应黄酮类化合物回收过氧缺体功能
机译:单纯性和多重自闭症谱系障碍的性别和复发比分析暗示特定性别等位基因为遗传机制
机译:等位基因特异性染色体构象及其与等位基因表达偏差的关联
机译:等位基因表达失衡促进突变的PEX6等位基因导致Zellweger光谱障碍
机译:Zellweger综合征谱患者的PEX6突变谱