TY - BOOK AU - Marwa Mahmoud Abdelaziz Alsharkawy AU - Fatma Elmougy , AU - Hanaa Elkaraksy , AU - Iman Atef Mandour , TI - Identification of common mutations causing wilson disease in Egyptian children / PY - 2012/// CY - Cairo : PB - Marwa Mahmoud Abdelaziz Alsharkawy , KW - Base pair KW - Elution buffer KW - Identification N1 - Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology; Issued also as CD N2 - 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 UR - http://172.23.153.220/th.pdf ER -