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

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Hu FL, Gu Z, Kozich V, Kraus JP, Ramesh, Shih VE (1993) Molecular basis of cystathionine β-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.Hum Mol Genet 2: 1957–1960.Google Scholar
  2. Kozich V, Kraus JP (1992) Screening for mutations by expressing patient cDNA segments inE. coli: homocystinuria due to cystathionine β-synthase deficiency.Hum Mutat 1: 113–123.Google Scholar
  3. Kozich V, de Franchis R, Kraus JP (1993) Molecular defect in a patient with pyridoxine-responsive homocystinuria.Hum Mol Genet 2: 815–816.Google Scholar
  4. Kraus JP, Le K, Swaroop M et al (1993) Human cystathionine β-synthase cDNA: sequence, alternative splicing and expression in cultured cells.Hum Mol Genet 2: 1633–1638.Google Scholar
  5. Maniatis T, Fritsch EF, Sambrook J (1987)Molecular Cloning: A Laboratory Manual. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory.Google Scholar
  6. Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors.Proc Natl Acad Sci USA 74: 5463–5467.Google Scholar

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

Personalised recommendations