Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II)-Reference-Cited by-同舟云学术

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Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II)

Published:2004-12-22 Issue:3 Volume:116 Page:160-166
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Chang Jui-Hung,Lin Shuan-Pei,Lin Shu-Chuan,Tseng Kai-Li,Li Chia-Ling,Chuang Chih-Kuang,Lee-Chen Guey-Jen

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-004-1234-3.pdf

Reference22 articles.

1. Bonuccelli G, Di Natale P, Corsolini F, Villani G, Filocamo M (2001) The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II. Biochim Biophys Acta 1537:233?238

2. Bunge S, Steglich C, Beck M, Rosenkranz W, Schwinger E, Hopwood JJ, Gal A (1992) Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome). Hum Mol Genet 1:335?339

3. Cooper DN, Youssoufian H (1998) The CpG dinucleotide and human genetic disease (review). Hum Genet 78:151?155

4. Crotty PL, Braun SE, Anderson RA, Whitley CB (1992) Mutation R468W of the iduronate-2-sulfatase 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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1. Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study;Clinical Genetics;2023-03-22

2. A molecular genetics view on Mucopolysaccharidosis Type II;Mutation Research/Reviews in Mutation Research;2021-07

3. Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course;Molecular Genetics and Metabolism Reports;2020-09

4. Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II);International Journal of Molecular Sciences;2019-12-23

5. Calnexin promotes the folding of mutant iduronate 2-sulfatase related to mucopolysaccharidosis type II;Biochemical and Biophysical Research Communications;2019-06

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