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

Research output: Contribution to journal › Letter

1 Citation (Scopus)
Original languageEnglish
Pages (from-to)167-170
Number of pages4
JournalClinica Chimica Acta
Volume384
Issue number1-2
DOIs
Publication statusPublished - 2007 Sep 1

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Iduronate Sulfatase
Mucopolysaccharidosis II
Cercopithecus aethiops
RNA Splice Sites
COS Cells
Genetic Association Studies
Taiwan
Glycoproteins
Mutation

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

Cite this

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; Lin, Shuan Pei; Chuang, Chih Kuang; Lee, Guey-Jen.

In: Clinica Chimica Acta, Vol. 384, No. 1-2, 01.09.2007, p. 167-170.

Research output: Contribution to journal › Letter

Chang, JH, Lin, SP, Chuang, CK & 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, vol. 384, no. 1-2, pp. 167-170. https://doi.org/10.1016/j.cca.2007.06.014
Chang JH, Lin SP, Chuang CK, Lee G-J. 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. 2007 Sep 1;384(1-2):167-170. https://doi.org/10.1016/j.cca.2007.06.014
Chang, Jui Hung ; Lin, Shuan Pei ; Chuang, Chih Kuang ; Lee, Guey-Jen. / 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. In: Clinica Chimica Acta. 2007 ; Vol. 384, No. 1-2. pp. 167-170.
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keywords = "Donor splice site, Genotype-molecular phenotype correlation, Iduronate-2-sulfatase, Mucopolysaccharidosis type II, Novel mutation",
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