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

C Zekanowsk; B Perez; L R Desviat; W Wiszniewski; M Ugarte

doi:10.18388/abp.2000_4016

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

C Zekanowsk Department of Medical Genetics, National Research Institute of Mother and Child, Warszawa, Poland. czarekz@imid.med.pl;
B Perez
L R Desviat
W Wiszniewski
M Ugarte

DOI: https://doi.org/10.18388/abp.2000_4016

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.

Published

2000-06-30

Issue

Vol. 47 No. 2 (2000)

Section

Articles

Acta Biochimica Polonica is an OpenAccess quarterly and publishes four issues a year. All contents are distributed under the Creative Commons Attribution-ShareAlike 4.0 International (CC BY 4.0) license. Everybody may use the content following terms: Attribution — You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use.