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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	Benzoxazine-bismaleimide blends; Curing and thermal properties显示文摘	Santhosh Kumar K S Reghunadhan Nair C P Sadhana R	2007	European Polymer Journal2007，43，12：	1
3	Reduction of N2O with CO over FeMFI zeolites: influence of the preparation method on the iron species and catalytic behavior 显示文摘	Javier P rez-Ram rez Santhosh Kumar M Angelika Br ckner	2004	Journal of Catalysis2004，223，1：	1
4	Benzoxazine-bisnudeimide blends: Curing and thermal properties 显示文摘	Santhosh Kumar K S Reghunadhan Nair C P Sadhana R	2007	European Polymer Journal2007，43，12：	1
5	Gold nanoparticles dispersed polyaniline grafted multiwall carbon nanotubes as newer electrocatalysts: Preparation and performances for methanol oxidation 显示文摘	Santhosh P Gopalan A Lee K P	2006	J Catal2006，238，1：	1
6	Investigations on the cure chemistry and polymer properties of benzoxazine - eyanate ester blends显示文摘	Santhosh Kumar K S Reghunadhan Nair C P Ninan K N	2009	European Polymer Journal2009，45，2：	1
7	Electrochemical,spectroelectrochemical and spectroscopic evidences for copolymer formation between diphenylamine and m-toluidine显示文摘	Santhosh P Sankarasubramanian M Thanneermalai M	2004	Materials Chemistry and Physics2004，85，：	1
8	Development and evaluation of reverse transcription loop mediated isothermal amplification assay for rapid and real-time detection of Japanese Encephalitis virus显示文摘	Parida M M Santhosh S R Dash P K	2006	J Clin Micobiology2006，44，11：	1
9	Effect of strontium substitution in (Nb,Bi) doped TiO2 varistors 显示文摘	Santhosh P N Kharat D K Date S K	1996	Mater Lett1996，28，：	1
10	Effect of stronium substitution in (Nb, Bi) doped TiO2 varistors显示文摘	Santhosh P N Kharat D K	1996	Materials Letters1996，28，9：	1
11	Polymerase chain reaction restriction fragment length polymorphism of mitochondrial 12S rRNA gene:a simple method for identification of poultry meat species显示文摘	GIRISH P S ANJANEYULU A S R SANTHOSH F H et el	2007	Veterinary Res Communi2007，31，：	1
12	Benzoxazine-bismaleimide blends: Curing and thermal properties显示文摘	SANTHOSH KUMAR K S REGHUNADHAN NAIR C P SADHANA R	2007	European Polymer Journal2007，43，12：	1
13	Electrospun poly(vinylidene fluoride)/poly(aminophenylboronic acid) composite nanofibrous membrane as a novel glucose sensor 显示文摘	Manesh K M Santhosh P Gopalan A	2007	Analytical Biochemistry2007，360，2：	1
14	On the origin of itinerant electron behaviour and longrange ferromagnetic order in La1-xSrxCoO3显示文摘	GANGULY P ANIL KUMAR P S SANTHOSH P N	1994	J Phys Condens Matter1994，6，：	1
15	Synthesis of sulphated proteoglycans by primary cultures of rat hepatocyte modulation by matrix substratum 显示文摘	Santhosh A Mathew S Sudhakaran P R	1996	Molecular and Cellular Biochemistry1996，165，1：	1
16	Electrochem- ical, spectroelectrochemical and spectroscopic evidences for copolymer formation between diphenylamine and m-toluidine 显示文摘	SANTHOSH P SANKARASUBRAMANIAN M THANNEERMALAI M GOPALAN A VASUDEVAN T	2004	Mater Chem Phys2004，85，23：	1
17	Developmentof electrospun PVDF-PAN membrane-basedpolymer electrolytes for lithium batteries显示文摘	GOPALAN A L SANTHOSH P MANESH K M	2008	Journal ofMembrane Science2008，，2：	1
18	显示文摘	Arulraj A Santhosh P N Golapan R S	1998	J Phys Cond Matter1998，10，：	1
19	In situ UV/visible spectroelectro-chemical studies on the copolymerization of diphenylamine with ortho-methoxy aniline显示文摘	SANTHOSH P GOPALAN A VASUDEVAN T	2003	Spectrochim Acta: A2003，59，7：	1
20	显示文摘	Santhosh P N Arulraj A Vanitha P V	1999	J Phys Cond Matter1999，11，：	1

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