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Molecular analysis of patients affected by homocystinuria due to cystathionine β-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11

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Journal of Inherited Metabolic Disease

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References

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Authors and Affiliations

  1. Department of Pediatrics, Federico II University, Via S. Pansini 5, 80131, Napoli, Italy

    M. P. Sperandeo, M. Panico, A. Pepe, G. Andria & G. Sebastio

  2. Laboratoire de Biochimie, Hôpital Pasteur 30, Nice, France

    M. Candito

  3. Department of Pediatrics, University of Colorado School of Medicine, Denver, Colorado, USA

    R. de Franchis & J. P. Kraus

Authors
  1. M. P. Sperandeo
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  2. M. Panico
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  3. A. Pepe
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  4. M. Candito
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  5. R. de Franchis
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  6. J. P. Kraus
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  7. G. Andria
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  8. G. Sebastio
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Sperandeo, M.P., Panico, M., Pepe, A. et al. Molecular analysis of patients affected by homocystinuria due to cystathionine β-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11. J Inherit Metab Dis 18, 211–214 (1995). https://doi.org/10.1007/BF00711769

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  • DOI: https://doi.org/10.1007/BF00711769

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