## 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
Detection of hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: Biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers
β Scribed by Shuan-Pei Lin; Jui-Hung Chang; Guey-Jen Lee-Chen; Dar-Shong Lin; Hsiang-Yu Lin; Chih-Kuang Chuang
- Book ID
- 116347120
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 160 KB
- Volume
- 369
- Category
- Article
- ISSN
- 0009-8981
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Communicated by Jurgen Horsr Genomic DNA and cDNA from fibroblasts from nine unrelated German patients with X-linked iduronate-2-sulfatase (IDS) deficiency showing variable clinical manifestation were screened for point mutations and small structural aberrations. Direct sequencing revealed a splice
## 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
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