Open AccessAB092. A novel variant c.1506G>C at exon 9 of iduronate 2-sulfatase gene in mucopolysaccharidosis type II Indonesian child
Author(s) -
Yulia Ariani,
Rizky Priambodo,
Cut Nurul Hafifah,
Damayanti Rusli Sjarif
Publication year - 2017
Publication title -
annals of translational medicine
Language(s) - English
Resource type - Journals
eISSN - 2305-5847
pISSN - 2305-5839
DOI - 10.21037/atm.2017.s092
Subject(s) - mucopolysaccharidosis type ii , hunter syndrome , sanger sequencing , mucopolysaccharidosis , exon , lysosome , gene , lysosomal storage disease , genetics , medicine , biology , mutation , enzyme replacement therapy , enzyme , biochemistry , disease
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