امیر, ملیکا

[ 1 ] - بررسی مولکولی و آنالیز بیوانفورماتیکی دو جهش شایع ژن فنیل‌آلانین هیدروکسیلاز(PAH) با روش HRM

BACKGROUND AND OBJECTIVE: Phenylketonuria (PKU) is the most prevalent inborn error of amino acid metabolism in the world and its incidence rate is increasing in Iran. The aim of the present study was to assess the efficiency of HRM technique as a fast and suitable method in identifying common mutations of phenylalanine hydroxylase gene including IVS10-11G>A and P281L in order to improve the early…