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

  • M. P. Sperandeo
  • M. Panico
  • A. Pepe
  • M. Candito
  • R. de Franchis
  • J. P. Kraus
  • G. Andria
  • G. Sebastio
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

Authors and Affiliations

  • M. P. Sperandeo
    • 1
  • M. Panico
    • 1
  • A. Pepe
    • 1
  • M. Candito
    • 2
  • R. de Franchis
    • 3
  • J. P. Kraus
    • 3
  • G. Andria
    • 1
  • G. Sebastio
    • 1
  1. 1.Department of PediatricsFederico II UniversityNapoliItaly
  2. 2.Laboratoire de BiochimieHôpital Pasteur 30NiceFrance
  3. 3.Department of PediatricsUniversity of Colorado School of MedicineDenverUSA