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.
Chang
Jui-Hung
JH
Lee-Chen
Guey-Jen
GJ
Lin
Shuan-Pei
SP
Chuang
Chih-Kuang
CK
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
D006023:Glycoproteins; C018322:IDS protein, human; D022821:RNA Splice Sites