Article
The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH alleles.
Molecular genetics and metabolism - 1 Jan 2011
Kostandyan Natella, Britschgi Corinne, Matevosyan Albert, Oganezova Alvina, Davtyan Anahit, Blau Nenad, Steinmann Beat, Thöny Beat
Abstract excerpt
We present the spectrum of phenylalanine hydroxylase (PAH) gene mutations upon investigating 35 index patients identified with hyperphenylalaninemia in Armenia. One patient was diagnosed with dihydropteridine reductase (DHPR) deficiency, whereas all other 34 and their 6 affected siblings presented with mild or classical phenylketonuria (PKU). By analyzing all 13 exons plus exon-intron boundaries of the PAH gene,...
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