A deletion involving exons 2–4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome
✍ Scribed by Gloria Bonuccelli; Stefano Regis; Mirella Filocamo; Fabio Corsolini; Francesco Caroli; Rosanna Gatti
- Book ID
- 110887737
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 837 KB
- Volume
- 53
- Category
- Article
- ISSN
- 0009-9163
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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 Francesco Giannelli Mucopolysaccharidosis type I1 (MI'S 11) is an X-chromosomal storage disorder due to deficiency of the lysosomal enzyme iduronate-2-sulfatase