000 01562cam a2200325 a 4500
003 EG-GiCUC
008 140309s2013 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.2013.La.G
100 0 _aLamia Mohamed Hussein
245 1 0 _aGenetic study in Egyptian children with wilson disease /
_cLamia Mohamed Hussein ; Supervised Ola Abdelmonem Elseesy , Hanaa Elkaraksy , Heba Sharaf Eldin
246 1 5 _aدراسة جينية لمرض ويلسون فى الاطفال المصريين
260 _aCairo :
_bLamia Mohamed Hussein ,
_c2013
300 _a101 P. :
_bcharts , facsimiles ;
_c25cm
502 _aThesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology
520 _aBackground : Wilson disease (WD) is an autosomal recessive disorder caused by defects in the copper transporting P- type A TPase encoded by ATP7B gene resulting in deposition of copper mainly in liver and brain with significant disability or death if left untreated . An available regimen of treatment gives hope to those predisposed to the disease if diagnosed early
530 _aIssued also as CD
653 4 _aATP7B
653 4 _aDNA sequencing
653 4 _aWilson disease
700 0 _aHanaa Elkaraksy ,
_eSupervisor
700 0 _aHeba Sharaf Eldin ,
_eSupervisor
700 0 _aOla Abdelmonem Elseesy ,
_eSupervisor
905 _aNazla
_eRevisor
905 _aSoheir
_eCataloger
942 _2ddc
_cTH
999 _c45310
_d45310