Article
Mutation spectrum of the PAH gene in the PKU patients from Khorasan Razavi province of Iran.
Gene - 10 Sept 2012
Hamzehloei T, Hosseini S A, Vakili R, Mojarad M
Abstract excerpt
BACKGROUND: Characterization of the molecular basis of phenylketonuria (PKU) in North-east of Iran has been accomplished through the analysis of 62 unrelated chromosomes from 31 Iranian PKU patients. METHODS: Phenylalanine hydroxylase (PAH) gene mutations have been analyzed by direct DNA sequencing exons 6, 7, 10 and 11. RESULTS: A mutation detection rate of 74% was achieved. Eleven different mutations were...
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