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