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Publicacions

  • Canals I, Elalaoui S, Pineda M, Delgadillo V, Szlago M, Jaouad I, Sefiani A, Chabás A, Coll M, Grinberg D and Vilageliu L.

    Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles

    CLINICAL GENETICS . 80(4): 367-374. Nº de cites: 20

    [doi:10.1111/j.1399-0004.2010.01525.x]