In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene

Cezary Zekanowski, Belen Perez, Lourdes R. Desviat, Wojciech Wiszniewski, Magdalena Ugarte

Research output: Contribution to journalArticle

8 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)365-369
Number of pages5
JournalActa Biochimica Polonica
Volume47
Issue number2
StatePublished - Dec 1 2000

Keywords

  • Expression analysis
  • Hyperphenylalaninemia
  • Mutation
  • Phenylalanine hydroxylase

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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