A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA

Am J Hum Genet. 1996 Dec;59(6):1391-3.
No abstract available

Publication types

  • Letter

MeSH terms

  • Alleles
  • Alternative Splicing
  • Cystathionine beta-Synthase / deficiency*
  • Homocystinuria / ethnology
  • Homocystinuria / genetics*
  • Humans
  • Italy
  • Mutagenesis, Insertional / genetics*

Substances

  • Cystathionine beta-Synthase