Hunter disease in the Spanish population: Molecular analysis in 31 families

@article{Gort2004HunterDI,
  title={Hunter disease in the Spanish population: Molecular analysis in 31 families},
  author={L. Gort and A. Chab{\'a}s and M. Coll},
  journal={Journal of Inherited Metabolic Disease},
  year={2004},
  volume={21},
  pages={655-661}
}
  • L. Gort, A. Chabás, M. Coll
  • Published 2004
  • Medicine, Biology
  • Journal of Inherited Metabolic Disease
  • Mucopolysaccharidosis type II (Hunter disease) is an X-linked disorder due to deficiency of the lysosomal enzyme iduronate 2-sulphatase. Here we report an update of molecular studies in 31 Spanish families with Hunter disease. We found a total of 22 novel small mutations (7 reported previously by our group), and 4 large deletions or rearrangements. Particularly relevant are two mutations, one showing an alternatively spliced product although the normal splice site is conserved; the other… CONTINUE READING
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