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

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

doi:10.1016/j.cca.2007.06.014

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

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

^*此作品的通信作者

生命科學系

研究成果: 雜誌貢獻 › 通訊期刊論文 › 同行評審

2 引文斯高帕斯（Scopus）

原文	英語
頁（從 - 到）	167-170
頁數	4
期刊	Clinica Chimica Acta
卷	384
發行號	1-2
DOIs	https://doi.org/10.1016/j.cca.2007.06.014
出版狀態	已發佈 - 2007 9月

ASJC Scopus subject areas

生物化學
臨床生物化學
生物化學（醫學）

存取文件

10.1016/j.cca.2007.06.014

其它文件與鏈接

引用此

@article{4581c202912443bb886fbf08a07fea89,

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 Lee-Chen, {Guey Jen}",

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",

}

TY - JOUR

T1 - 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

AU - Chang, Jui Hung

AU - Lin, Shuan Pei

AU - Chuang, Chih Kuang

AU - Lee-Chen, Guey Jen

N1 - 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.

PY - 2007/9

Y1 - 2007/9

KW - Donor splice site

KW - Genotype-molecular phenotype correlation

KW - Iduronate-2-sulfatase

KW - Mucopolysaccharidosis type II

KW - Novel mutation

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U2 - 10.1016/j.cca.2007.06.014

DO - 10.1016/j.cca.2007.06.014

M3 - Letter

C2 - 17655837

AN - SCOPUS:34547895961

SN - 0009-8981

VL - 384

SP - 167

EP - 170

JO - Clinica Chimica Acta

JF - Clinica Chimica Acta

IS - 1-2

ER -