Article
The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria.
Human genetics - 1 Aug 1991
Konecki D S, Schlotter M, Trefz F K, Lichter-Konecki U
Abstract excerpt
DNA sequence analysis of the 13 exons and intron/exon boundaries of the phenylalanine hydroxylase (PAH) gene has detected two base transitions, resulting in mis-sense mutations, in the genomic DNA of a Turkish patient (E1) with phenylketonuria (PKU). The Leu48----Ser amino acid substitution was associated with the mutant haplotype 3 allele and the Glu221----Gly amino acid substitution with the mutant haplotype 4...
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