| 000 | 01788cam a2200349 a 4500 | ||
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| 003 | EG-GiCUC | ||
| 005 | 20250223030153.0 | ||
| 008 | 100113s2009 ua dh f m 000 0 eng d | ||
| 040 |
_aEG-GiCUC _beng _cEG-GiCUC |
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| 041 | 0 | _aeng | |
| 049 | _aDeposite | ||
| 097 | _aM.Sc | ||
| 099 | _aCai01.08.01.M.Sc.2009.Mo.M | ||
| 100 | 0 | _aMohamed Abdelhamid Elsayed Mohamed | |
| 245 | 1 | 0 |
_aMolecular characterization of phenylketonuria mutation patterns in Egyptian patients / _cMohamed Abdelhamid Elsayed Mohamed ; Supervised Adel Ali Kheir Eldin , Laila Kamal Effatt |
| 246 | 1 | 5 | _aالتميز الجزيئى لأنماط طفرة الفينيل كيتونيوريا فى المرضى المصريين |
| 260 |
_aCairo : _bMohamed Abdelhamid Elsayed Mohamed , _c2009 |
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| 300 |
_a134Leaves : _bcharts , facsimiles ; _c25cm |
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| 502 | _aThesis (M.Sc.) - Cairo University - Faculty of Pharmacy - Department of Biochemistry | ||
| 520 | _aThe 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 | ||
| 530 | _aIssued also as CD | ||
| 653 | 4 | _aMolecular characterization | |
| 653 | 4 | _aPhenylalanine hydroxylase gene | |
| 653 | 4 | _aPhenylketonuria | |
| 700 | 0 |
_aAdel Ali Kheir Eldin , _eSupervisor |
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| 700 | 0 |
_aLaila Kamal Effatt , _eSupervisor |
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| 856 | _uhttp://172.23.153.220/th.pdf | ||
| 902 | _a1 | ||
| 905 |
_aNazla _eRevisor |
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| 905 |
_aSoheir _eCataloger |
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| 942 |
_2ddc _cTH |
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| 999 |
_c29058 _d29058 |
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