Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99

J Inherit Metab Dis. 1997 Jul;20(3):363-6. doi: 10.1023/a:1005325911665.
No abstract available

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Base Sequence
  • Cystathionine beta-Synthase / deficiency*
  • Cystathionine beta-Synthase / genetics*
  • Czech Republic
  • Female
  • Homocystinuria / enzymology
  • Homocystinuria / genetics*
  • Humans
  • Infant, Newborn
  • Introns / genetics
  • Male
  • Minisatellite Repeats
  • Molecular Sequence Data
  • Mutation*
  • Polymerase Chain Reaction
  • RNA, Messenger / analysis
  • RNA, Messenger / biosynthesis
  • Slovakia

Substances

  • RNA, Messenger
  • Cystathionine beta-Synthase