Phenylalanine Hydroxylase Activity in Liver Biopsies from Hyperphenylalaninemia Heterozygotes: Deviation from Proportionality with Gene Dosage

@article{Kaufman1975PhenylalanineHA,
  title={Phenylalanine Hydroxylase Activity in Liver Biopsies from Hyperphenylalaninemia Heterozygotes: Deviation from Proportionality with Gene Dosage},
  author={Seymour Kaufman and Edward E. Max and Ellen Song Kang},
  journal={Pediatric Research},
  year={1975},
  volume={9},
  pages={632-634}
}
Extract: Liver biopsy samples from the patients with hyperphenylalaninemia have an average of 5% of the normal hydroxylase activity. The parents of the patients have between 7.3% (excluding the value for one parent) and 10% of the normal hepatic hydroxylase activity. An explanation for these findings involves negative interallelic complementation, which… CONTINUE READING