Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics

J Pediatr. 2002 May;140(5):502-6. doi: 10.1067/mpd.2002.124316.
No abstract available

Publication types

  • Review

MeSH terms

  • DNA Mutational Analysis*
  • Evolution, Molecular
  • Gene Expression / physiology*
  • Genetic Testing*
  • Homeostasis
  • Humans
  • Mutation / physiology
  • Phenotype*
  • Phenylketonurias / genetics