High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients

Hum Mutat. 1995;6(2):177-80. doi: 10.1002/humu.1380060211.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosome Mapping
  • Cystathionine beta-Synthase / genetics*
  • DNA Mutational Analysis
  • Homocystinuria / genetics*
  • Humans
  • Ireland
  • Molecular Sequence Data
  • Mutation*
  • Polymerase Chain Reaction

Substances

  • Cystathionine beta-Synthase