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  14. Savige J: Should we diagnose autosomal dominant Alport syndrome when there is a pathogenic heterozygous COL4A3 or COL4A4 variant? Kidney Int Rep, 2018; 3: 1239–1241.

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  20. アミカス・セラピューティクス：ガラフォルドⓇに反応性のあるGLA変異一覧 (2020年5月29日)．http://www.amicusrx.jp/pdf/GALAFOLD_GLA.pdf