title: Characterization of a novel p.S305P and a known c.1006+5G>C splice site mutation in human iduronate-2-sulfatase associated with mucopolysaccharidosis type II.
authors.forename: Jui-Hung
authors.initials: JH
authors.lastname: Chang
authors.forename: Guey-Jen
authors.initials: GJ
authors.lastname: Lee-Chen
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
authors.forename: Chih-Kuang
authors.initials: CK
authors.lastname: Chuang
mesh_terms: D000293:Adolescent; D000328:Adult; D000818:Animals; D019556:COS Cells; D002522:Chlorocebus aethiops; D006023:Glycoproteins / Q000032:analysis / Q000235:genetics*; D006801:Humans; D008297:Male; D016532:Mucopolysaccharidosis II / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D022821:RNA Splice Sites / Q000235:genetics*; D013624:Taiwan
chemical_list: D006023:Glycoproteins; C018322:IDS protein, human; D022821:RNA Splice Sites