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

J Inherit Metab Dis. 1995;18(2):211-4. doi: 10.1007/BF00711769.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Cystathionine beta-Synthase / deficiency*
  • Europe
  • Exons
  • Homocystinuria / enzymology
  • Homocystinuria / etiology*
  • Homocystinuria / genetics
  • Humans
  • Introns
  • Molecular Sequence Data
  • Mutation*
  • Repetitive Sequences, Nucleic Acid
  • Sequence Deletion*

Substances

  • Cystathionine beta-Synthase