Open AccessFrom diagnosis to treatment of mucopolysaccharidosis type VI: A case report with a novel variant, c.1157C>T (p.Ser386Phe), in ARSB gene
Author(s) -
Sukdong Yoo,
Jun Lee,
Minji Kim,
Ju Young Yoon,
Chong Kun Cheon
Publication year - 2022
Publication title -
journal of genetic medicine
Language(s) - English
Resource type - Journals
eISSN - 2233-9108
pISSN - 1226-1769
DOI - 10.5734/jgm.2022.19.1.32
Subject(s) - mucopolysaccharidosis , genetics , medicine , gene , pediatrics , biology
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