Mohamed Abdelhamid Elsayed Mohamed  <br/><br/>
Molecular characterization of phenylketonuria mutation patterns in Egyptian patients /  
 التميز الجزيئى لأنماط طفرة الفينيل كيتونيوريا فى المرضى المصريين 
Mohamed Abdelhamid Elsayed Mohamed ; Supervised Adel Ali Kheir Eldin , Laila Kamal Effatt 
 - Cairo :   Mohamed Abdelhamid Elsayed Mohamed ,   2009 
 - 134Leaves :   charts , facsimiles ;   25cm 
<br/><br/>Thesis (M.Sc.) - Cairo University - Faculty of Pharmacy - Department of Biochemistry 
<br/><br/> The present study was designed to analyze the phenylalanine hydroxylase (PAH) gene in 50 unrelated patients with phenylketonuria (PKU) to characterize the different mutations and polymorphisms that delineate the molecular genetic background of the disease in Egypt. It also aimed at providing a simple and cost - effective method for detecting the R176X mutation in exon 6. DNA was extracted from all patients using a standard procedure 
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<br/><br/><label>Subjects--Index Terms: </label>Molecular characterization Phenylalanine hydroxylase gene  Phenylketonuria