Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families

J Inherit Metab Dis. 1994;17(3):377-8. doi: 10.1007/BF00711839.
No abstract available

MeSH terms

  • Genotype
  • Haplotypes
  • Humans
  • Infant, Newborn
  • Oligonucleotide Probes
  • Phenotype
  • Phenylalanine / blood
  • Phenylalanine Hydroxylase / deficiency
  • Phenylketonurias / genetics*
  • Phenylketonurias / physiopathology
  • Spain

Substances

  • Oligonucleotide Probes
  • Phenylalanine
  • Phenylalanine Hydroxylase