In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus
Simon W. M. John+3 more
openalex +1 more source
Constancy of Expression of the Protein Kinase A Regulatory Subunit Rla in Hepatoma Cell Lines of Different Phenotypes [PDF]
Boshart, Michael+3 more
core
Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria [PDF]
Angelina Xavier Acosta+3 more
openalex +1 more source
A 22-bp deletion in the phenylalanine hydroxylase gene causing phenylketonuria in an Arab family
Sandra E. Kleiman+3 more
openalex +1 more source
Mutagenesis of the regulatory domain of phenylalanine hydroxylase [PDF]
Guoan Wang, Peide Gu, Seymour Kaufman
openalex +1 more source
Hydroxylation of 4-methylphenylalanine by rat liver phenylalanine hydroxylase.
Hans‐Ulrich Siegmund, Seymour Kaufman
openalex +1 more source
Embryonic but Not Postnatal Reexpression of Hepatocyte Nuclear Factor 1α (HNF1α) Can Reactivate the Silent Phenylalanine Hydroxylase Gene in HNF1α-Deficient Hepatocytes [PDF]
Benoı̂t Viollet+2 more
openalex +1 more source
Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase. [PDF]
Pecimonova M+8 more
europepmc +1 more source