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Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)

✍ Scribed by K. Isogai; K. Sukegawa; S. Tomatsu; T. Fukao; X-Q. Song; Y. Yamada; S. Fukuda; T. Orii; N. Kondo


Book ID
110223109
Publisher
Springer
Year
1998
Tongue
English
Weight
193 KB
Volume
21
Category
Article
ISSN
0141-8955

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Hunter syndrome is a rare, X-linked, recessively inherited disease affecting approximately 1 in 132,000 males. The disease is caused by the inability to degrade dermatan sulphate and heparan sulphate due to mutations in the iduronate-2-sulphatase gene (IDS). The mutations causing the disorder are he