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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	Studies on the synthesis of titanium silicalite, TS - 1 显示文摘	Thangaraj A Eapen M J Sivasanker S	1992	Zeolites1992，12，8：	1
3	Clinical features and associated psychopathology in a Tourette syndrome cohort显示文摘	Eapen V Fox-hiley P Banerjee S	2004	Acta Neurol Scand2004，109，4：	1
4	Phenol removal using Brassica juncea hairy roots: Role of inherent peroxidase and H2O2显示文摘	Singh S Melo J S Eapen S	2006	J Biotechnol2006，123，1：	1
5	Mechanism of thermal transport in dilute nanocolloids 显示文摘	Eapen J Li J Yip S	2007	Physical Review Letters2007，，：	1
6	One-Unit versus Two-Unit Cord-Blood transplantation for hematologic cancers显示文摘	Wagner J Eapen M Carter S	2014	N Engl J Med2014，371，18：	1
7	Hydrothermal crystallization of zeolite beta using tetraethylatnmoniumbromide显示文摘	Eapen M J Reddy K S N Shiralkar V P	1994	Zeolites1994，14，4：	1
8	Beyond the Maxwell limit= Thermal conduction in nanofluids with percolating fluid structures 显示文摘	Eapen J Li J Yip S	2007	Physical Review E2007，，：	1
9	Studies on the synthesis of titanium silicate, TS-1显示文摘	Thangaraj A Eapen M J Sivasanker S	1992	Zeolites1992，12，8：	1
10	ATP7B mutations in families in a predominantly southern Indian cohort of Wilson's disease patients显示文摘	Santhosh S Shaji R V Eapen C E Jayanthi V Malathi S Chandy M	2006	Indian J Gastroenterol2006，25，：	1
11	Pollen gains as a target for introduction of foreign genes into plants: an assessment 显示文摘	Eapen S	2011	Physiology and Molecular Biology of Plants2011，17，：	1
12	Studies on the synthesis of titanium silicalite, TS-1显示文摘	THANGARAJ A EAPEN M J SIVASANKER S	1992	Zeolites1992，12，：	1
13	Influence of genotype and explant source on somatic embryogenesis in peanut显示文摘	GEORGE L EAPEN S	1993	Oleagineux1993，48，89：	1
14	Plant regeneration from leaf discs of peanut and pigeonpea:influence of benzyladenine,indoleacetic acid and indoleacetic acid amino acid conjugates显示文摘	Eapen S George L	1993	Plant Cell Tissue and Organ Culture1993，35，3：	1
15	Prospects of genetic engineering of plants for phytoremediation of toxic metals显示文摘	Eapen S D'Souza SF	2005	Biotechnol Adv2005，23，2：	1
16	Advances in development of transgenic plants for remediation of xenobiotic pollutants显示文摘	Eapen S	2007	Biotech- nology Adv2007，25，：	1
17	Influence of genotype and explant source on somatic embryogenesis in peanut显示文摘	George L Eapen S	1993	Oleagineux1993，48，89：	1
18	Plant regeneration by somatic embryogenesis from immature inflorescence cultures of Sorghum almum显示文摘	George L Eapen S	1988	Ann Bot1988，61，：	1
19	Direct regeneration of shoots from immature inflorscence culture of Turmeric显示文摘	George L Eapen S	2000	Plant Cell Tissue and Organ Culture2000，62，：	1
20	显示文摘	Eapen M J Sivasanker S	1992	Zeolites1992，12，8：	1

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