Open AccessA Novel mutation in iduronate-2-sulfatase gene Exon 6 of an Indonesian patient with Mucopolysaccharidosis type II
Author(s) -
Anggia Nurwulan Kusno Putri,
Rizky Priambodo,
Yulia Ariani,
Y. Pangestika,
Cut Nurul Hafifah,
Anom Bowolaksono,
Damayanti Rusli Sjarif
Publication year - 2018
Publication title -
journal of physics. conference series
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 85
eISSN - 1742-6596
pISSN - 1742-6588
DOI - 10.1088/1742-6596/1073/3/032051
Subject(s) - mucopolysaccharidosis type ii , exon , hunter syndrome , mutation , lysosomal storage disease , genetics , mucopolysaccharidosis , biology , gene , microbiology and biotechnology , medicine , disease , enzyme replacement therapy