Mutation Analysis In Turkish Phenylketonuria Patients

Abstract

Forty-four classical PKU patients have been screened for various mutations. The newly identified IVS 10 splicing mutation was found in 32% of the mutant alleles and comprises 74.5% of the mutations that could be typed: 261arg-gln (6.8%), 158arg-gly (2.3%),252arg-trp (1.1%),280glu-lys (-), and 272gly-stop (-) were the other mutations that were screened.