Mutation analysis in mild hyperphenylalaninemia (HPA) patients - whom and what to screen?

Clin Biochem. 2014 Feb;47(3):236. doi: 10.1016/j.clinbiochem.2013.11.004. Epub 2013 Nov 15.
No abstract available

Keywords: Hyperphenylalaninemia; Large deletions; Mutation analysis; PAH gene.

Publication types

  • Letter
  • Comment

MeSH terms

  • Humans
  • Mutation*
  • Phenylalanine Hydroxylase / genetics*
  • Phenylketonurias / etiology*

Substances

  • Phenylalanine Hydroxylase