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

  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},
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… Expand
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