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

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

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinica Chimica Acta - Volume 384, Issues 1–2, September 2007, Pages 167-170

Jui-Hung Chang, Shuan-Pei Lin, Chih-Kuang Chuang, Guey-Jen Lee-Chen,