Mutation analysis IVS10-11 G> A in patients with phenylketonuria (PKU) in West Azarbaijan province

PKU is an autosomal recessive disease that converts phenylalanine to tyrosine due to defects in the original .zhn the disease caused by phenylalanine hydroxylase (PAH), which itself is prone to high mutation .jhsh IVS10-11 G> A common Most mutations in the PAH gene and communities in the Mediterranean. Hzf of this study was to determine leap IVS10-11 G> A in patients with PKU in West Azerbaijan province and compare it with many studies in other parts of Iran.

Keywords:

phenylketonuria , mutation , PAH , PKU