Journal of Genetic Medicine : eISSN 2383-8442 / pISSN 1226-1769
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Yoo S, Lee J, Kim M, Yoon JY, , Cheon CK.  From diagnosis to treatment of mucopolysaccharidosis type VI: A case report with a novel variant, c.1157C>T (p.Ser386Phe), in <i>ARSB</i> gene.  Journal of Genetic Medicine 2022;19:32-37.