The molecular basis of phenylketonuria in Latvia.

  title={The molecular basis of phenylketonuria in Latvia.},
  author={Natalia Pronina and Sergio Giannattasio and P J Lattanzio and Rita Lugovska and Parsla Vevere and A Kornejeva},
  journal={Human mutation},
  volume={21 4},
Characterization of the molecular basis of phenylketonuria (PKU) in Latvia has been accomplished through the analysis of 96 unrelated chromosomes from 50 Latvian PKU patients. Phenylalanine hydroxylase (PAH) gene mutations have been analyzed through a combined approach in which R158Q, R252W, R261Q, G272X, IVS10-11G>A and R408W mutations were first screened for by PCR or restriction generating PCR amplification of PAH gene exons 5, 7, 11 and 12 followed by digestion with the appropriate… CONTINUE READING