Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: Enzymatic activity, protein processing and structural analysis-Reference-Cited by-同舟云学术

Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: Enzymatic activity, protein processing and structural analysis

Published:2006-11-07 Issue:6 Volume:29 Page:755-761
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Sukegawa-Hayasaka K.,Kato Z.,Nakamura H.,Tomatsu S.,Fukao T.,Kuwata K.,Orii T.,Kondo N.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-006-0440-7

Reference33 articles.

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3. Chang JH, Lin SP, Lin SC, et al (2005) Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II). Hum Genet 116: 160–166.

4. Crotty PL, Braun SE, Anderson RA, Whitlry CB (1992) Mutation R468W of the iduronate-2-sulfatse gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression. Hum Mol Genet 1: 755–757.

5. Cudry S, Tigaud I, Froissart R, Bonnet V, Maire I, Bozon D (2000) MPS II in females: molecular basis of two different cases. J Med Genet 37:e29.

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