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Genes to diagnosis and therapy in glycogenomics disorders:ヒト糖鎖関連希少疾患GDP-フコース輸送体欠損症を例として
(第45回日本分子生物学会年会、(ワークショップ3PW-05)糖鎖が関わる難治性・希少疾患:基礎から診断・治療まで 2022)