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
Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients
β Scribed by S. Karsten; Elena Voskoboeva; Svetlana Tishkanina; U. Pettersson; Xcenia Krasnopolskaja; Marie-Louise Bondeson
- Book ID
- 106137103
- Publisher
- Springer
- Year
- 1998
- Tongue
- English
- Weight
- 55 KB
- Volume
- 103
- Category
- Article
- ISSN
- 0340-6717
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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
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