Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia

Hum Mutat. 1995;5(2):188-90. doi: 10.1002/humu.1380050217.
No abstract available

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cell Line
  • DNA Mutational Analysis*
  • DNA, Complementary / genetics
  • Drosophila / enzymology
  • Drosophila / genetics
  • Gene Expression
  • Haplotypes / genetics
  • Humans
  • Molecular Sequence Data
  • Pedigree
  • Phenylalanine Hydroxylase / genetics
  • Phenylketonurias / classification
  • Phenylketonurias / etiology
  • Phenylketonurias / genetics*
  • Sequence Homology, Amino Acid
  • Spain

Substances

  • DNA, Complementary
  • Phenylalanine Hydroxylase