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

@article{Venturi2002MolecularAO,
  title={Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.},
  author={Nicola Venturi and Attilio Maria Rovelli and Rossella Parini and Francesca Menni and F Brambillasca and F Bertagnolio and Graziella Uziel and Rosanna Gatti and Mirella Filocamo and Maria Alice Donati and Andrea Biondi and Stefano Goldwurm},
  journal={Human mutation},
  year={2002},
  volume={20 3},
  pages={231}
}
Mucopolysaccharidosis type I (MPS-I orMPS1) is an autosomal recessive condition characterized by a broad range of clinical symptoms. Molecular diagnosis of MPS-I is important for analyzing genotype-phenotype correlation and for selecting patients for innovative therapies. In this study we analyzed 30 Italian MPS-I patients with different phenotypes (20 severe, 6 intermediate, 4 mild) in an attempt to recognize the mutational spectrum in our population and to identify major DNA alterations… CONTINUE READING

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