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Molecular study of premutation alleles of fragile x mental retardation 1 gene in females / Rasha Samir Elmahdy Seddik ; Supervised Maged Mohammed A. Barakat , Nagwa Abdellmeguid Mohammed , Manal Fouad Ismail

By: Contributor(s): Material type: TextTextLanguage: English Publication details: Cairo : Rasha Samir Elmahdy Seddik , 2013Description: 123 P. : facsimiles ; 25cmOther title:
  • FMR1دراسة جزيئية للسيدات حاملي ما قبل الطفرة لجين ال [Added title page title]
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  • Issued also as CD
Dissertation note: Thesis (M.Sc.) - Cairo University - Faculty of Pharmacy - Department of Biochemistry Summary: The fragile X premutation has important implications for multiple members of the same family. Poor knowledge about fragile X syndrome plays a major role as a barrier for early diagnosis in the developing countries. The study will address female carriers with fragile X premutation, who were ascertained through families with known fragile X syndrome proband as the nature of the clinical phenotype has not been well characterized in Egyptian female carriers
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Item type Current library Home library Call number Copy number Status Date due Barcode
Thesis Thesis قاعة الرسائل الجامعية - الدور الاول المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.08.01.M.Sc.2013.Ra.M (Browse shelf(Opens below)) Not for loan 01010110063202000
CD - Rom CD - Rom مخـــزن الرســائل الجـــامعية - البدروم المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.08.01.M.Sc.2013.Ra.M (Browse shelf(Opens below)) 63202.CD Not for loan 01020110063202000

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

The fragile X premutation has important implications for multiple members of the same family. Poor knowledge about fragile X syndrome plays a major role as a barrier for early diagnosis in the developing countries. The study will address female carriers with fragile X premutation, who were ascertained through families with known fragile X syndrome proband as the nature of the clinical phenotype has not been well characterized in Egyptian female carriers

Issued also as CD

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