Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia.

Abstract excerpt

Phenylketonuria (PKU), an autosomal recessive disorder caused by a deficiency of hepatic phenylalanine hydroxylase (PAH), is clinically very heterogeneous. On molecular level more than 350 mutations in the PAH gene are known to date, which in different genotype combinations could account for biochemical and clinical variability. Mutations located in exon 3 coding for a part of the regulatory domain of the PAH...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child, Preschool
• Share to DNA Mutational Analysis
• Share to Exons