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奈良県立医科大学 小児科学 | 論文

• Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis : a common mutation, R179X
• A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease) : molecular genetic study
• Molecular genetic study in Japanese patients with Alexander disease : a novel mutation, R79L
• Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis

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