The Jikei University School of Medicine · Graduate School of Medicine / Faculty of Medicine

Research keywordsmedical genetics・rare disease genomics・KMT2A・NR3C2・splice-switching oligonucleotides・gene therapy・GM1 gangliosidosis・Fabry disease

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• 先天性代謝異常症と腎疾患 ファブリー病
• Aggressive B-Cell Lymphoma Involving the Appendix and Bilateral Ovaries in an 11-Year-Old Girl.
• 特徴的な無呼吸発作を呈し呼吸管理に難渋する新規MECP2変異の重症男児例
• A novel NR3C2 mutation in a Japanese patient with the renal form of pseudohypoaldosteronism type 1.

• 血液脳関門を克服するGM1ガングリオシドーシスへの遺伝子治療法の開発

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