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A Molecular study of ABCB4 gene mutation in cholestatic disorders of infancy and childhood / Amira Kotb Abd Allah Mohamed ; Supervised Fatma Ahmed Fathy Elmougy , Hanaa Moustafa Elkaraksy , Mona Mohamed Fathy

By: Contributor(s): Material type: TextTextLanguage: English Publication details: Cairo : Amira Kotb Abdallah Mohamed , 2015Description: 79 P. : charts ; 25cmOther title:
  • فى أمراض الركود المراري فى الطفوله ABCB4 الدراسه الجزيئيه فى التحور الجيني [Added title page title]
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Dissertation note: Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology Summary: Background: Progressive familial intrahepatic cholestasis (PFIC) refers to heterogeneous group of autosomal recessive liver disorders of childhood in which cholestasis of hepatocellular origin often presents in the neonatal period or first year of life and leads to death from liver failure at ages usually ranging from infancy to adolescence . PFIC represents 10 to 15% of causes of cholestasis in children and 10 to 15% of liver transplantation indications in children. PFIC1 and PFIC2 represent 2/3 of cases of PFIC, and PFIC3 1/3 of cases . Methods: Screening of exons 13,14 and 15 of 30 patients with PFCI3 by direct gene sequancing.Detailed clinical and laboratoty history of the patients were carried out,to properly diagnose patients with PFIC3
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Thesis Thesis قاعة الرسائل الجامعية - الدور الاول المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.07.M.Sc.2015.Am.M (Browse shelf(Opens below)) Not for loan 01010110066922000
CD - Rom CD - Rom مخـــزن الرســائل الجـــامعية - البدروم المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.07.M.Sc.2015.Am.M (Browse shelf(Opens below)) 66922.CD Not for loan 01020110066922000

Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

Background: Progressive familial intrahepatic cholestasis (PFIC) refers to heterogeneous group of autosomal recessive liver disorders of childhood in which cholestasis of hepatocellular origin often presents in the neonatal period or first year of life and leads to death from liver failure at ages usually ranging from infancy to adolescence . PFIC represents 10 to 15% of causes of cholestasis in children and 10 to 15% of liver transplantation indications in children. PFIC1 and PFIC2 represent 2/3 of cases of PFIC, and PFIC3 1/3 of cases . Methods: Screening of exons 13,14 and 15 of 30 patients with PFCI3 by direct gene sequancing.Detailed clinical and laboratoty history of the patients were carried out,to properly diagnose patients with PFIC3

Issued also as CD

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