Journal of Inherited Metabolic Disease

, Volume 18, Issue 2, pp 211–214

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

Authors

  • M. P. Sperandeo
    • Department of PediatricsFederico II University
  • M. Panico
    • Department of PediatricsFederico II University
  • A. Pepe
    • Department of PediatricsFederico II University
  • M. Candito
    • Laboratoire de BiochimieHôpital Pasteur 30
  • R. de Franchis
    • Department of PediatricsUniversity of Colorado School of Medicine
  • J. P. Kraus
    • Department of PediatricsUniversity of Colorado School of Medicine
  • G. Andria
    • Department of PediatricsFederico II University
  • G. Sebastio
    • Department of PediatricsFederico II University
Short Communication

DOI: 10.1007/BF00711769

Cite this article as:
Sperandeo, M.P., Panico, M., Pepe, A. et al. J Inherit Metab Dis (1995) 18: 211. doi:10.1007/BF00711769

Copyright information

© Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1995