Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)
β Scribed by C. E. Beesley; M. Jackson; E. P. Young; A. Vellodi; B. G. Winchester
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 140 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0141-8955
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## Communicated by Elizabeth F. Neufeld Mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo A syndrome) is caused by mutations in the N-sulfoglucosamine sulfohydrolase (SGSH) gene and the resulting defective lysosomal degradation of the glycosaminoglycan heparan sulfate. The onset and progressio
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.