Mutation spectrum of the PAH gene in the PKU patients from Khorasan Razavi province of Iran.

@article{Hamzehloei2012MutationSO,
  title={Mutation spectrum of the PAH gene in the PKU patients from Khorasan Razavi province of Iran.},
  author={Tayebeh Hamzehloei and Seyed Ali Malek Hosseini and Rahim Vakili and Majid Mojarad},
  journal={Gene},
  year={2012},
  volume={506 1},
  pages={230-2}
}
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 found, with the most frequent mutation, IVS10-11G>A, accounting for 19% of Khorasan… CONTINUE READING
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