Molecular characterization of phenylketonuria mutation patterns in Egyptian patients / Mohamed Abdelhamid Elsayed Mohamed ; Supervised Adel Ali Kheir Eldin , Laila Kamal Effatt

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Mohamed Abdelhamid Elsayed Mohamed

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TextLanguage: eng Publication details: Cairo : Mohamed Abdelhamid Elsayed Mohamed , 2009Description: 134Leaves : charts , facsimiles ; 25cmOther title:

التميز الجزيئى لأنماط طفرة الفينيل كيتونيوريا فى المرضى المصريين [Added title page title]

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Dissertation note: Thesis (M.Sc.) - Cairo University - Faculty of Pharmacy - Department of Biochemistry Summary: 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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Item type	Current library	Home library	Call number	Copy number	Status	Barcode
Thesis	قاعة الرسائل الجامعية - الدور الاول	المكتبة المركزبة الجديدة - جامعة القاهرة	Cai01.08.01.M.Sc.2009.Mo.M (Browse shelf(Opens below))		Not for loan	01010110052389000
CD - Rom	مخـــزن الرســائل الجـــامعية - البدروم	المكتبة المركزبة الجديدة - جامعة القاهرة	Cai01.08.01.M.Sc.2009.Mo.M (Browse shelf(Opens below))	52389.CD	Not for loan	01020110052389000

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Previous	Cai01.08.01.M.Sc.2009.Ma.E. Evaluation of survivin and hyaluronidase as urine markers in patients with bladder cancer /	Cai01.08.01.M.Sc.2009.Ma.E. Evaluation of survivin and hyaluronidase as urine markers in patients with bladder cancer /	Cai01.08.01.M.Sc.2009.Mo.M Molecular characterization of phenylketonuria mutation patterns in Egyptian patients /	Cai01.08.01.M.Sc.2009.Mo.M Molecular characterization of phenylketonuria mutation patterns in Egyptian patients /	Cai01.08.01.M.Sc.2009.We.E Effect of portal and peripheral sera of permissive and non - permissive hosts on the maturation of schistosoma mansoni schistosomules /	Cai01.08.01.M.Sc.2009.We.E Effect of portal and peripheral sera of permissive and non - permissive hosts on the maturation of schistosoma mansoni schistosomules /	Cai01.08.01.M.Sc.2010.Ah.D Detection of aberrant promoter methylation of retinoic acid receptor gene (RAR ) in the urine of bladder cancer patients /	Next

Thesis (M.Sc.) - Cairo University - Faculty of Pharmacy - Department of Biochemistry

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

Issued also as CD

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