title: In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene.
abstract: Phenylketonuria (PKU), an autosomal recessive disorder caused be a deficiency of hepatic phenylalanine hydroxylase (PAH), is clinically very heterogeneous. At the molecular level, more than 400 mutations in the PAH gene are known to date, which in different genotype combinations could account for biochemical and clinical variability of symptoms. In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented.
authors.affiliation: Department of Medical Genetics, National Research Institute of Mother and Child, Warszawa, Poland. czarekz@imid.med.pl
authors.forename: C
authors.initials: C
authors.lastname: Zekanowsk
authors.forename: B
authors.initials: B
authors.lastname: Perez
authors.forename: L R
authors.initials: LR
authors.lastname: Desviat
authors.forename: W
authors.initials: W
authors.lastname: Wiszniewski
authors.forename: M
authors.initials: M
authors.lastname: Ugarte
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D000818:Animals; D019556:COS Cells; D002648:Child; D002675:Child, Preschool; D002522:Chlorocebus aethiops; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D016297:Mutagenesis, Site-Directed; D020125:Mutation, Missense; D010641:Phenotype; D010649:Phenylalanine / Q000097:blood; D010651:Phenylalanine Hydroxylase / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D010661:Phenylketonurias / Q000201:enzymology / Q000235:genetics*; D011994:Recombinant Proteins / Q000378:metabolism
chemical_list: D011994:Recombinant Proteins; D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase