@article{112c90f522d54c8fb0382e975ef92026,
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",
keywords = "Donor splice site, Genotype-molecular phenotype correlation, Iduronate-2-sulfatase, Mucopolysaccharidosis type II, Novel mutation",
author = "Chang, {Jui Hung} and Lin, {Shuan Pei} and Chuang, {Chih Kuang} and Guey-Jen Lee",
note = "Funding Information: We thank the patients' families for their support. In addition, Taiwan Foundation for Rare Disorders is acknowledged for providing thesis scholarship. This study was supported by grants NSC-90-2311-B-003-004, NSC-91-2311-B-003-002, and NSC-92-2311-B-003-003 from the National Science Council, Executive Yuan, ROC.",
year = "2007",
month = sep,
doi = "10.1016/j.cca.2007.06.014",
language = "English",
volume = "384",
pages = "167--170",
journal = "Clinica Chimica Acta",
issn = "0009-8981",
publisher = "Elsevier",
number = "1-2",
}