محمدیان, سکینه

[ 1 ] - بررسی جهش های اگزون 11-10ژن فنیل آلانین هیدروکسیلاز در بیماران فنیل کتونوری از استان گلستان

Background: Phenylketonuria (PKU), the most common inborn error of aminoacid metabolism, is an autosomal recessive disorder caused by more than 600 mutations in Phenylalanine Hydroxylase gene (PAH). Distribution pattern of mutations in the PAH gene are specific to each population. The aim of this study was to identify mutations in exons 10 and 11 of the PAH gene in patients with PKU from Golest...