000 01725cam a2200349 a 4500
003 EG-GiCUC
005 20250223030728.0
008 121225s2012 ua dh f m 000 0 eng d
040 _aEG-GiCUC
_beng
_cEG-GiCUC
041 0 _aeng
049 _aDeposite
097 _aPh.D
099 _aCai01.11.07.Ph.D.2012.Ma.I
100 0 _aMarwa Mahmoud Abdelaziz Alsharkawy
245 1 0 _aIdentification of common mutations causing wilson disease in Egyptian children /
_cMarwa Mahmoud Abdelaziz Alsharkawy ; Supervised Fatma Elmougy , Hanaa Elkaraksy , Iman Atef Mandour
246 1 5 _aتحديد الطفرات الشائعه المسببه لمرض الويلسون فى الأطفال المصريين
260 _aCairo :
_bMarwa Mahmoud Abdelaziz Alsharkawy ,
_c2012
300 _a161 P. :
_bcharts , facsimiles ;
_c25cm
502 _aThesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology
520 _aWilson 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
530 _aIssued also as CD
653 4 _aBase pair
653 4 _aElution buffer
653 4 _aIdentification
700 0 _aFatma Elmougy ,
_eSupervisor
700 0 _aHanaa Elkaraksy ,
_eSupervisor
700 0 _aIman Atef Mandour ,
_eSupervisor
856 _uhttp://172.23.153.220/th.pdf
905 _aNazla
_eRevisor
905 _aSamia
_eCataloger
942 _2ddc
_cTH
999 _c40720
_d40720