Identification of common mutations causing wilson disease in Egyptian children /
Marwa Mahmoud Abdelaziz Alsharkawy
Identification of common mutations causing wilson disease in Egyptian children / تحديد الطفرات الشائعه المسببه لمرض الويلسون فى الأطفال المصريين Marwa Mahmoud Abdelaziz Alsharkawy ; Supervised Fatma Elmougy , Hanaa Elkaraksy , Iman Atef Mandour - Cairo : Marwa Mahmoud Abdelaziz Alsharkawy , 2012 - 161 P. : charts , facsimiles ; 25cm
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
Base pair Elution buffer Identification
Identification of common mutations causing wilson disease in Egyptian children / تحديد الطفرات الشائعه المسببه لمرض الويلسون فى الأطفال المصريين Marwa Mahmoud Abdelaziz Alsharkawy ; Supervised Fatma Elmougy , Hanaa Elkaraksy , Iman Atef Mandour - Cairo : Marwa Mahmoud Abdelaziz Alsharkawy , 2012 - 161 P. : charts , facsimiles ; 25cm
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
Base pair Elution buffer Identification