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IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

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author: David N. Cooper  Camillo Rosano  Ilyas Okur  Andrea Biondi  Anna Tylki-Szymańska  Carlo Dionisi-Vici  Rossella Parini  Matthew Mort 

Publication date March 10, 2011
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