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J-GLOBAL ID：201902220066951552   Reference number：19S0373613

Intra-mitochondrial methylation deficiency due to mutations in SLC25A26

Author (38)： Kishita, Yoshihito (Division of Functional Genomics and Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University) ,  Okazaki, Yasushi (Division of Functional Genomics and Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University) ,  Okazaki, Yasushi (Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University) ,  Pajak, Aleksandra (Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine) ,  Maffezzini, Camilla (Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine) ,  Freyer, Christoph (Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine) ,  Freyer, Christoph (Centre for Inherited Metabolic Diseases, Karolinska University Hospital) ,  Wredenberg, Anna (Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine) ,  Wredenberg, Anna (Centre for Inherited Metabolic Diseases, Karolinska University Hospital) ,  Wedell, Anna (Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine) ,  Wedell, Anna (Centre for Inherited Metabolic Diseases, Karolinska University Hospital) ,  Wedell, Anna (Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet) ,  Bolar, Nikhita Ajit (Department of Medical Genetics, University of Antwerp, Antwerp University Hospital) ,  Van Laer, Lut (Department of Medical Genetics, University of Antwerp, Antwerp University Hospital) ,  Loeys, Bart L. (Department of Medical Genetics, University of Antwerp, Antwerp University Hospital) ,  Loeys, Bart L. (Department of Genetics, Radboud University Medical Center) ,  Marobbio, Carlo M.T. (Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari) ,  Miniero, Daniela V. (Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari) ,  Monné, Magnus (Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari) ,  Monné, Magnus (Department of Sciences, University of Basilicata) ,  Palmieri, Ferdinando (Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari) ,  Kohda, Masakazu (Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University) ,  Stranneheim, Henrik (Centre for Inherited Metabolic Diseases, Karolinska University Hospital) ,  Stranneheim, Henrik (Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet) ,  Naess, Karin (Centre for Inherited Metabolic Diseases, Karolinska University Hospital) ,  Naess, Karin (Department of Laboratory Medicine, Karolinska Institutet) ,  Lesko, Nicole (Centre for Inherited Metabolic Diseases, Karolinska University Hospital) ,  Lesko, Nicole (Department of Laboratory Medicine, Karolinska Institutet) ,  Bruhn, Helene (Centre for Inherited Metabolic Diseases, Karolinska University Hospital) ,  Bruhn, Helene (Department of Laboratory Medicine, Karolinska Institutet) ,  Wibom, Rolf (Centre for Inherited Metabolic Diseases, Karolinska University Hospital) ,  Wibom, Rolf (Department of Laboratory Medicine, Karolinska Institutet) ,  Murayama, Kei (Department of Metabolism, Chiba Children's Hospital) ,  Mourier, Arnaud (Max Planck Institute for Biology of Ageing) ,  Nennesmo, Inger (Department of Pathology, Karolinska University Hospital) ,  Jespers, Ann (Paola Children's Hospital, ZNA Middelheim) ,  Govaert, Paul (Paola Children's Hospital, ZNA Middelheim) ,  Ohtake, Akira (Department of Pediatrics, Saitama Medical University)
Material： American Journal of Human Genetics
Volume： 97  Issue： 5  Page： 761-768  Publication year： 2015 
JST Material Number： SCOPUS  ISSN： 0002-9297  CODEN： AJHGA 
Country of issue： United States (USA)  Language： English (EN)