Phenylketonuria mutations in Europe

J Zschocke - Human mutation, 2003 - Wiley Online Library
Phenylketonuria (PKU) is heterogeneous. More than 400 different mutations in the
phenylalanine hydroxylase (PAH) gene have been identified. In a systematic review of the …

[PDF][PDF] The molecular basis of phenylketonuria and hyperphenylalaninemia in Latvia

N Pronina - 2012 - rsu.lv
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism in
Europeans. It is caused by an autosomal recessive deficiency of the hepatic enzyme …