Open AccessNovel variations in Exon 4 of the iduronate 2-sulfatase gene in six Indonesian patients with mucopolysaccharidosis type II
Author(s) -
M. F. Purwanto,
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 - 10.1088/1742-6596/1073/3/032070
Subject(s) - mucopolysaccharidosis type ii , missense mutation , exon , genetics , nonsense mutation , hunter syndrome , biology , mutation , gene , silent mutation , mucopolysaccharidosis , microbiology and biotechnology , gene mutation , medicine , disease , biochemistry , enzyme replacement therapy