TY  - BOOK
AU  - Mohamed Abdelhamid Elsayed Mohamed 
AU  - Adel Ali Kheir Eldin , 
AU  - Laila Kamal Effatt , 
TI  - Molecular characterization of phenylketonuria mutation patterns in Egyptian patients / 
PY  - 2009///
CY  - Cairo : 
PB  - Mohamed Abdelhamid Elsayed Mohamed , 
KW  - Molecular characterization
KW  - Phenylalanine hydroxylase gene
KW  - Phenylketonuria
N1  - Thesis (M.Sc.) - Cairo University - Faculty of Pharmacy - Department of Biochemistry; Issued also as CD
N2  - 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
UR  - http://172.23.153.220/th.pdf
ER  -