Association between Minihaplotypes and Mutations at the Phenylalanine Hydroxylase Locus in Latvian Phenylketonuria Patients

@inproceedings{Proina2011AssociationBM,
  title={Association between Minihaplotypes and Mutations at the Phenylalanine Hydroxylase Locus in Latvian Phenylketonuria Patients},
  author={Nat{\^a}lija Pro{\`o}ina and Rita Lugovska},
  year={2011}
}
Phenylketonuria (PKU; OMIM 261600) is one of the most common inborn errors of metabolism in Caucasians, with a frequency of 1 : 10 000 newborns in Europe. It is an autosomal recessive trait caused by a deficiency of hepatic phenylalanine hydroxylase (PAH; 1 phenylalanine 4-monooxygenase, EC 1.14.16.1), the main clinical signs of which are impaired cognitive… CONTINUE READING