Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.

N. Venturi, A. Rovelli, R. Parini, F. Menni, F. Brambillasca, F. Bertagnolio, G. Uziel, R. Gatti, M. Filocamo, M. A. Donati, A. Biondi, S. Goldwurm

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Medicine & Life Sciences