Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.

@article{Filocamo2001MolecularAO,
  title={Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.},
  author={Mirella Filocamo and G Bonuccelli and Fabio Corsolini and Raffaella Mazzotti and Roberto Cusano and Rosanna Gatti},
  journal={Human mutation},
  year={2001},
  volume={18 2},
  pages={164-5}
}
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 phenotype. We are able to assign the genotype to 29 of them (72.5%), identifying 22 different mutations, five of which are unpublished (c.533delTT, W12X, N265I, c.1131-1142del, c.1131-1305del). A total of… CONTINUE READING

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