Hokkaido Information University · Department of Medical Informatics / Faculty of Medical Informatics

Research keywordsコンピュータを用いて・遺伝子の変異がタンパク質の構造及び機能に及ぼす影響と病気との関連性を調べたり・薬となる分子を設計したりしています.

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• Screening of Fabry disease in patients with chronic kideny disease in Japan. Nephrol Dial Transplant (2021)2021
• Fabry disease in a Japanese population-molecular and biochemical characteristics. Mol. Genet.Metab.Rep (2018)2018
• Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase. Mol.Genet.Metab. (2016)2016
• Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations. J.Hum.Genet. (2015)2015

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