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
Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome
β Scribed by S. Keeratichamroen; J. R. Ketudat Cairns; D. Wattanasirichaigoon; P. Wasant; L. Ngiwsara; P. Suwannarat; S. Pangkanon; J. Kuptanon; P. Tanpaiboon; T. Rujirawat; S. Liammongkolkul; J. Svasti
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 144 KB
- Volume
- 31
- 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
Hunter syndrome (Mucopolysaccharidosis type II, MPS2) is an X-linked recessively inherited disease caused by a deficiency of iduronate 2 sulfatase (IDS). In this study, we investigated mutations of the IDS gene in 25 Korean Hunter syndrome patients. We identified 20 mutations, of which 13 mutations
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