Improving phenylketonuria genotyping by screening for the IVS4+5g>t mutation in the PAH gene

Clin Chim Acta. 2009 Apr;402(1-2):206-8. doi: 10.1016/j.cca.2008.10.029. Epub 2008 Nov 11.
No abstract available

Publication types

  • Letter

MeSH terms

  • Alleles
  • Exons / genetics
  • Female
  • Genotype
  • Haplotypes / genetics
  • Humans
  • Introns / genetics
  • Male
  • Mutation / genetics
  • Organic Anion Transport Protein 1 / genetics*
  • Phenylketonurias / diagnosis
  • Phenylketonurias / genetics*
  • Polymorphism, Single Nucleotide / genetics

Substances

  • Organic Anion Transport Protein 1