A number of mutations in the X-chromosomal human iduronate-2-sulphatase gene have now been identified as the primary genetic defect leading to the clinical condition known as Hunter syndrome or mucopolysaccharidosis type 11. The mutations that are tabulated include different deletions, splice-site a
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)
β 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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## 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
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
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