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 journalLetter

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

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

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