Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome-Reference-Cited by-同舟云学术

Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome

Published:2008-05-20 Issue:S2 Volume:31 Page:303-311
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Keeratichamroen S.,Ketudat Cairns J. R.,Wattanasirichaigoon D.,Wasant P.,Ngiwsara L.,Suwannarat P.,Pangkanon S.,Kuptanon J.,Tanpaiboon P.,Rujirawat T.,Liammongkolkul S.,Svasti J.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-008-0876-z

Reference29 articles.

1. Alves S, Mangas M, Prata MJ, et al (2006) Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations. J Inherit Metab Dis 29: 743–754.

2. Bondeson ML, Malmgren H, Dahl N, Carlberg BM, Pettersson U. (1995a) Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome. Eur J Hum Genet 3: 219–227.

3. Bondeson ML, Dahl N, Malmgren H, et al (1995b) Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. Hum Mol Genet 4: 615–621.

4. Bunge S, Steglich C, Beck M, et al (1992) Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome). Hum Mol Genet 1: 335–339.

5. 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.

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