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

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

Department of Life Science

Research output: Contribution to journal › Letter

1 Citation (Scopus)

Original language	English
Pages (from-to)	167-170
Number of pages	4
Journal	Clinica Chimica Acta
Volume	384
Issue number	1-2
DOIs	https://doi.org/10.1016/j.cca.2007.06.014
Publication status	Published - 2007 Sep 1

Keywords

Donor splice site
Genotype-molecular phenotype correlation
Iduronate-2-sulfatase
Mucopolysaccharidosis type II
Novel mutation

ASJC Scopus subject areas

Biochemistry
Clinical Biochemistry
Biochemistry, medical

Access to Document

10.1016/j.cca.2007.06.014

Cite this

Chang, J. H., Lin, S. P., Chuang, C. K., & Lee, G-J. (2007). 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. Clinica Chimica Acta, 384(1-2), 167-170. https://doi.org/10.1016/j.cca.2007.06.014

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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",

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AU - Chang, Jui Hung

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AU - Chuang, Chih Kuang

AU - Lee, Guey-Jen

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KW - Genotype-molecular phenotype correlation

KW - Iduronate-2-sulfatase

KW - Mucopolysaccharidosis type II

KW - Novel mutation

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