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Diagnosis of Hunter syndrome: identification of iduronate-2-sulfatase gene mutations in patients with mucopolysaccharidosis type II in Chinese

✍ Scribed by Zhang Chunya; Li Luyun; Liu Shangfeng; Fu JunJiang; Lu Guangxiu


Book ID
119421102
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
57 KB
Volume
80
Category
Article
ISSN
1556-5653

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Mucopolysaccharidosis type II (MPS2, or Hunter syndrome), rare X-linked lysosomal storage disorder, results from deleterious mutations in the iduronate-2-sulfatase (IDS) gene. We report here the mutational analysis of a total of 40 unrelated Italian MPS II patients ranging from mild to severe phenot