Shimmoto Michie | Department Of Clinical Genetics The Tokyo Metropolitan Institute Of Medical Science Tokyo Metropolit

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著作論文

Molecular and structural studies of Japanese patients with sialidosis type 1
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis
Molecular form and subcellular distribution of acid β-galactosidase in fibroblasts from patients with G_ gangliosidosis,Morquio B disease and galactosialidosis
Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis
Japanese-type adult galactosialidosis. A unique and common splice junction mutation causing exon skipping in the protective protein/carboxypeptidase gene.:A Unique and Common Splice Junction Mutation Causing Exon Skipping in the Protective Protein/Carboxy

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