The mutations and VNTRs in the phenylalanine hydroxylase gene of phenylketonuria in St Petersburg

J Inherit Metab Dis. 1996;19(5):705. doi: 10.1007/BF01799853.
No abstract available

MeSH terms

  • Alleles
  • Founder Effect
  • Gene Frequency
  • Humans
  • Minisatellite Repeats*
  • Mutation*
  • Phenylalanine Hydroxylase / genetics*
  • Phenylketonurias / enzymology*
  • Phenylketonurias / genetics*
  • Point Mutation
  • Russia
  • Sequence Deletion

Substances

  • Phenylalanine Hydroxylase