Identification of a nature of mutation in the 12th exon of phenylalanine hydroxylase gene in patients with phenylketonuria

: Upon amplification in vitro of the 12th exon area of the human phenylalanine hydroxylase gene followed by allele-specific hybridisation of the amplification product with synthetic probes and its sequencing by the Maxam-Gilbert method, a C----T transition causing phenylketonuria has been identified in Latvian patients.