Enosawa Shin | Department of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP
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- 同名の論文著者
- Department of Inherited Metabolic Disease, National Institute of Neuroscience, NCNPの論文著者
Department of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP | 論文
- A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome
- Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis : a common mutation, R179X
- An infantile/juvenile form of Alexander disease caused by a R79H mutation in GFAP
- A common mutation and a novel mutation in Japanese patients with van der Knaap disease
- A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease) : molecular genetic study