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Identification of common mutations causing wilson disease in Egyptian children / Marwa Mahmoud Abdelaziz Alsharkawy ; Supervised Fatma Elmougy , Hanaa Elkaraksy , Iman Atef Mandour

By: Contributor(s): Material type: TextLanguage: English Publication details: Cairo : Marwa Mahmoud Abdelaziz Alsharkawy , 2012Description: 161 P. : charts , facsimiles ; 25cmOther title:
  • تحديد الطفرات الشائعه المسببه لمرض الويلسون فى الأطفال المصريين [Added title page title]
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Dissertation note: Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology Summary: Wilson disease is caused by excessive accumulation of copper in hepatic and extrahepatic tissues due to defective excretion of copper into bile. As a result, copper accumulates particularly in the liver, kidney, brain, and cornea. ATP7B gene, is responsible for transport of copper into bile from hepatocytes and its incorporation into apoceruloplasmin to form ceruloplasmin
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Thesis قاعة الرسائل الجامعية - الدور الاول المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.07.Ph.D.2012.Ma.I (Browse shelf(Opens below)) Not for loan 01010110059001000
CD - Rom مخـــزن الرســائل الجـــامعية - البدروم المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.07.Ph.D.2012.Ma.I (Browse shelf(Opens below)) 59001.CD Not for loan 01020110059001000

Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

Wilson disease is caused by excessive accumulation of copper in hepatic and extrahepatic tissues due to defective excretion of copper into bile. As a result, copper accumulates particularly in the liver, kidney, brain, and cornea. ATP7B gene, is responsible for transport of copper into bile from hepatocytes and its incorporation into apoceruloplasmin to form ceruloplasmin

Issued also as CD

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