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Intermediate form of mucopolysaccharidosis type II (Hunter disease): A C1327 to T substitution in the iduronate sulfatase gene

✍ Scribed by Kazuko Sukegawa; Shunji Tomatsu; Katsuyuki Tamai; Masako Ikeda; Toshiya Sasaki; Michiya Masue; Seiji Fukuda; Yukiji Yamada; Tadao Orii


Book ID
115764982
Publisher
Elsevier Science
Year
1992
Tongue
English
Weight
716 KB
Volume
183
Category
Article
ISSN
0006-291X

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## Communicated by Yusuke Nakamura Mucopolysaccharidosis type If (Hunter disease) is a lysosomal storage disorder caused by a deficiency of the enzyme iduronate-2-sulfatase. Varied clinical phenotypes of this disease have been described. To identify mutations in individual patients and to examine

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## Communicated by Francesco Giannelli Mucopolysaccharidosis type I1 (MI'S 11) is an X-chromosomal storage disorder due to deficiency of the lysosomal enzyme iduronate-2-sulfatase