The IVS8-2A>G (c.913-2A>G) mutation and the PAH deficiency populations of Central Europe

J Inherit Metab Dis. 2013 Jan;36(1):157. doi: 10.1007/s10545-012-9562-2. Epub 2012 Nov 16.
No abstract available

Publication types

  • Letter
  • Comment

MeSH terms

  • Alleles*
  • Biopterins / analogs & derivatives*
  • Biopterins / pharmacology
  • Humans
  • Mutation*
  • Phenylalanine Hydroxylase / deficiency*
  • Phenylalanine Hydroxylase / genetics*
  • Phenylketonurias / genetics*

Substances

  • Biopterins
  • Phenylalanine Hydroxylase
  • sapropterin