An infantile/juvenile form of Alexander disease caused by a R79H mutation in GFAP
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概要
- 論文の詳細を見る
Alexander disease is a degenerative white matter disorder due to mutations in the glial fibrillary acidic protein (GFAP) gene. It has been classified into three forms based on the age of onset and severity: an infantile, a juvenile, and an adult form. In a six-yearold patient with a relatively mild form of Alexander disease, we detected a common R79H mutation in GFAP previously only described in the infantile form. These results suggest the need for further studies of the genotype-phenotype correlation.
- Elsevierの論文
著者
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KANAZAWA Naomi
Department of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP
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TSUJINO Seiichi
Department of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP
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Saitoh Shinji
Department Of Pediatrics Hokkaido University Graduate School Of Medicine
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Asahina Naoko
Department Of Pediatrics Hokkaido University Graduate School Of Medicine
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OKAMOTO Takayuki
Department of Biopharmaceutics, Graduate School of Pharmaceutical Sciences, Osaka University
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Kanazawa Naomi
Department Of Inherited Metabolic Disease National Institute Of Neuroscience National Center Of Neur
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Saitoh Shinji
Department Of Pediatrics Graduate School Of Medicine Hokkaido University
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SUDO Akira
Department of Pediatrics, Hokkaido University, Graduate School of Medicine
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Sudo Akira
Department Of Pediatrics Hokkaido University Graduate School Of Medicine
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Sudo Akira
Department Of Pediatrics Graduate School Of Medicine Hokkaido University
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Tsujino Seiichi
Department Of Inherited Metabolic Disease National Institute Of Neuroscience National Center Of Neur
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Sudo Akira
Department Of Child Neurology National Center Hospital For Mental Nervous And Muscular Disorders Nat
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Kanazawa Naomi
Department Of Inherited Metabolic Disease National Institute Of Neuroscience National Center Of Neur
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Okamoto Takayuki
Department Of Pediatrics Hokkaido University Graduate School Of Medicine
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Saitoh Shinji
Department of Pediatrics, Hokkaido University Graduate School of Medicine
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