MRI findings in the mild type of mucopolysaccharidosis II (Hunter's syndrome)
β Scribed by S. Shimoda-Matsubayashi; Y. Kuru; H. Sumie; T. Ito; N. Hattori; Y. Okuma; Y. Mizuno
- Publisher
- Springer
- Year
- 1990
- Tongue
- English
- Weight
- 487 KB
- Volume
- 32
- Category
- Article
- ISSN
- 0028-3940
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Eight unrelated patients with Hunter syndrome were investigated for expression of iduronate-2-sulfatase (IDS) mRNA by reverse transcription (RT) linked to polymerase chain reaction (PCR), or RT-PCR. The entire coding region was studied by amplification of two overlapping segments of 0.7 and 1.1 kb.
## 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 is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). The IDS deficiency can be caused by several different types of mutations in the IDS gene. We have performed a molecular and mutation analysis of a total of 19 unrelat
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