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	题名	作者	年代	出处	被引量
1	Genotype phenotype correlation in Wilson's disease within families-a report on four south Indian families显示文摘AIM: To study the genotype phenotype correlation in Wilson's disease (WD) patients within families. METHODS: We report four unrelated families from South India with nine members affected with WD. Phenotype was classified as per international consensus phenotypic classifi cation of WD. DNA was extracted from peripheral blood and 21 exons of ATP7B gene and flanking introns were amplified by polymerase chain reaction (PCR). The PCR products were screened for mutations and the aberrant products noted on screening were sequenced. RESULTS: Four separate ATP7B mutations were found in the four families. ATP7B mutations were identical amongst affected members within each family. Three families had homozygous mutations of ATP7B gene while one family had compound heterozygous mutation, of which only one mutation was identifi ed. We noted concordance between ATP7B gene mutation and Wilson's disease phenotype amongst members within each family. The age of onset of symptoms or of detection of asymptomatic disease, baseline serum ceruloplasmin and baseline urinary copper levels were also similar in affected members of each family. Minor differences in phenotype and baseline serum ceruloplasmin level were noted in one family.CONCLUSION: We report concordance between ATP7B mutation and WD phenotype within each family with > 1 member affected with WD. Homozygous ATP7B mutation was present in 3 of the 4 families studied. Our report supports allelic dominance as a determinant of WD phenotype. However, in one family with compound heterozygous mutation, there was a similar WD phenotype which suggests that there may be other factors determining the phenotype.	S Santhosh RV Shaji CE Eapen V Jayanthi S Malathi P Finny N Thomas M Chandy G Kurian GM Chandy	2008	World Journal of Gastroenterology2008，14，29：	3
2	Additive partitioning of di- versity across hierarchical spatial scales in a forested landscape 显示文摘	Chandy S Gibson D J Robertson P A	2006	Journal of Applied Ecology2006，43，4：	1
3	Chitosan/calcium alginate microcapsules for intestinal delivery of nitrofurantoin显示文摘	Harip R Chandy T Sharma C P	1996	J Microencapsulation1996，13，3：	1
4	Central obesity is an independent risk factor for albuminuria in nondiabetic South Asian subjects 显示文摘	Chandie Shaw P K Berger S P Mallat M	2007	Diabetes Care2007，30，7：	1
5	Lipoprotein adsorption onto modified chitosan beads: preliminary study显示文摘	Sharma C P Chandy T Kumari T V	1993	Biomater Artif Cells Immobilization Biotechnol1993，21，5：	1
6	A literature review of cardiopulmonary bypass models for rats显示文摘	Philippe K Terence G Chandi P	1999	Perfusion1999，14，6：	1
7	Development of chitosan/polyethylene vinyl acetatete comatrix:Controlled release of asprin-heparin for preventing cardiovascular thrombosis显示文摘	Vasudev S C Chandy T Sharma C P	1997	biomaterial1997，18，：	1
8	Globally distributed product development using a new project management framework 显示文摘	PRATIM G P CHANDY V J	2004	International Journal of Project Management2004，22，8：	1
9	Lipoprotein adsorption onto modified chitosan beadspreliminary study显示文摘	Chandra P Sharma Tomas Chandy Kumari TV	1993	Miomat Art Cell & Immob Biotech1993，18，5：	1
10	Chitosan/calcium-alginate beads for oral delivery of insulin显示文摘	KARI P R CHANDY T SHARMA C P	1996	J Appl Polymer Sci1996，59，：	1
11	Chitosan/calcium alginate beads for oral delivery of insulin显示文摘	Kari P R Chandy T Sharma C P	1996	J Appl Polymer Sci1996，59，16：	1
12	Determination of nutrients limiting biofilm formation and the subsequent impact on disinfectant decay 显示文摘	Chandy J P Angles M L	2001	Wat Res2001，35，11：	1
13	显示文摘	Chandy T Sharma C P	1991	Biomaterials Artificial Cells and Immobilization Biotechnology1991，19，4：	1
14	Chitosan/Calciun alginate beads for oral delivery of insu;in 显示文摘	Hari PR Thomas Chandy Chandra P Shamla	1996	Journal of Applied Polymer Science1996，59，：	1
15	Chitosan/calcium alginate beads for oral delivery of insulin显示文摘	Karl P R Chandy T Sharma C P	1996	J Appl Polymer Sci1996，59，：	1
16	Chitosan-as a biomaterial 显示文摘	Chandy T Sharma C P	1990	Artificial Cells: Blood Substitutes and Biotechnology1990，18，1：	1
17	Chitosan/Calcium-Alginate beads for oral delivery of insulin显示文摘	Hari P R Chandy T Sharma C P	1998	Journal of Applied Polymer Science1998，59，11：	1
18	Chitosan/calcium alginate microeapsu le for intestina 1 delive of nitrofurantoin显示文摘	P R Hari T Chandy C P J Sharma		0，，13：	1
19	Determination of nutrients limiting biofilm formation and the subsequent impact on disinfection decay显示文摘	Chandy J P Angles M L	2001	Water Research2001，35，11：	1
20	Determination of nutrients limiting biofilm formation and the subsequent impact on disinfectant decay 显示文摘	CHANDY J P ANGLES M L	2001	Water Research2001，35，11：	1

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