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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	Comparison of the water transporting properties of MIP and AQPI 显示文摘	Chandy G Zampighi G A Kreman M	1997	J Membr Biol1997，159，1：	1
3	Radical Innovation Across Nations:The Preeminence of Corporate Culture显示文摘	TELLIS G J PRABHU J C CHANDY R K	2009	Journal of Marketing2009，，73：	1
4	Functional properties of rice bran protein concentrates显示文摘	Chandi G K Sogi D S	2007	Journal of Food Engineering2007，79，2：	1
5	Functional properties of rice bran protein concentrates显示文摘	Chandi G K Sogi D S	2007	Journal of Food Engineering2007，79，：	1
6	The incumbent's curse?In-cumbency size and radical product innovation显示文摘	CHANDY R TELLIS G	2000	Journalof Marketing2000，64，1：	1
7	A literature review of cardiopulmonary bypass models for rats显示文摘	Philippe K Terence G Chandi P	1999	Perfusion1999，14，6：	1
8	Effect of extraction tempera- ture on functional properties of rice bran protein concentrates 显示文摘	Gupta S Chandi G K Sogi D S	2008	International Journal of Food Engineering2008，4，2：	1
9	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
10	In search of diver- sity: the record of major marketing journals 显示文摘	Tellis G J Chandy R K Ackerman S	1999	Journal of Marketing Research1999，36，1：	1
11	Risk factors associsted with mucositis in cancer patients receiving 5-fluorouracil显示文摘	Awde J D Chandi H	1998	Oncol1998，34，6：	1
12	Mechanisms of cardiac perforation leading to tamponade in ballon mitral valvuloplasty显示文摘	Joseph G Chandy ST Krishnaswami S	1997	Cathet Cardiovasc Diagn1997，42，：	1
13	Organizing for radical product innovation: The overlooked role of willingness to cannibalize显示文摘	Chandy R K Tellis G J	1998	Journal of Marketing Research1998，35，4：	1
14	Organizing For Radical Product Innovation: The Overlooked Role of Willingness to Cannibalize显示文摘	Chandy R K Tellis G J	1998	Journal of Marketing Research1998，35，4：	1
15	Functional properties of rice bran protein concentrates显示文摘	CHANDI G K SOGI D S	2007	Journal of Food Engineering2007，79，2：	1
16	The incumbent's curse? Incumbency, size and radical product innovation显示文摘	CHANDY R K TELLIS G J	2000	Jour- nal of Marketing2000，64，3：	1
17	Changes in cisplatin delivery due to surface coated poly( lactic acid)-poly(q-caprolactone) microspheres显示文摘	Chandy T Wilson R F Rao G H R	2011	Joumal of Biomater Applied2011，16，2：	1
18	Radical innova-tion in firms across nations:the pre-eminence of corpo-rate culture显示文摘	TELLIS G PRABHU J CHANDY R	2009	Journal of Marketing2009，73，1：	1
19	K^+ channels as targets for specific immunomodulation显示文摘	Chandy K G Wulff H Beeton C Pennington M Gutman G A Cahalan M D	2004	Trends Pharmacol Sci2004，25，：	1
20	Radical innovation across nations : the pre-eminence of corporate culture 显示文摘	TELLIS G J PRABHU J C CHANDY R K	2009	Journal of Mar keting2009，73，1：	1

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