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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	Efficacy of heat treatment and sun drying of aflatoxin-contaminated feed for re- ducing the harmful biological effects in sheep显示文摘	Gowda N K S Suganthi R U Malathi V	2007	Animal Feed Science and Technology2007，133，1：	1
3	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
4	Efficacy of heat treatment and sun drying of Aflatoxin-contaminated feed for reducing the harmfull biological effects in sheep Animal显示文摘	Gowda NKS Suganthi RU Malathi V	2007	Feed Science and Technology2007，133，：	1
5	Oesophageal manometry in noncardiac chest pain显示文摘	Suthahar DR Malathi S Vidyanathan V	1994	Trop Gastroenterol1994，15，2：	1
6	Efficacy of heat treatment and sun drying of Aflatoxin-contaminated feed for reducing the harmfull biological effects in sheep显示文摘	Gowda NKS Suganthi RU Malathi V	2007	Animal Feed Science and Technology2007，133，：	1
7	in vitro evaluation of uonstarch polysaccharide digestibility of feed ingredients by enzymes显示文摘	MALATHI V DEVEGOWDA G	2001	Poultry Science2001，80，3：	1
8	Intelligent approa- ches using support vector machine and extreme learning machine for transmission line protection 显示文摘	Malathi V Marimuthu N S Baskar S	2010	Neurocom uutinu2010，73，：	1
9	ln vitro evaluation of nonstarch polysaccharide digestibility of feed ingredients by enzymes 显示文摘	Malathi v G Devegowda	2001	Poultry Science2001，80，：	1
10	Intelligent approaches using support vector machine and extreme learning machine for transmission line protection显示文摘	MALATHI V MARIMUTHU N S BASKAR S	2010	Neurocomputing2010，73，101112：	1
11	In vitro evaluation of nonstarch polysaecharidase digestibility of feed ingredients by enzynes 显示文摘	Malathi V Devegowda G	2001	Poultry Sci2001，80，：	1
12	Anthocyanins from Indian Varieties of grapes显示文摘	Ghosh N Malathy V Shalia K K	2002	Food Science Technology2002，39，4：	1
13	Novel PLGA-based nanoparticles for the oral deliveff of insulin 显示文摘	Malathi S Nandhakumar P Pandiyan V	2015	lnt J Nanomedi-citle2015，10，：	1
14	A noncyanide bath for the electrodeposition of tin-zinc alloys显示文摘	Vasantha V S Malathy Pushpavanam Muralidharan V S		0，，11：	1
15	Multiplex RT-PCR,a novel technique for the simultaneous detection of theDNA and RNA viruses causing rice tungro disease显示文摘	Periasamy M Niazi F R Malathi V G	2006	Journal of Virological Methods2006，134，：	1
16	Molecular cloning and characterization of complementary de oxyribonucleic acids corresponding to bovine tropho blast protein-1:a comparison with ovine trophoblast protein-1 and bovine interferon-alpha Ⅱ显示文摘	Imakawa K Hansen T R Malathy P V	1989	Mol Endocrinol1989，3，1：	1
17	Production of leukotrines and postaglangins in the rat uterus during peri-implantation period显示文摘	Malathy P V Chen H C Dey S K	1986	Prostaglandins1986，32，4：	1
18	Intelligent approaches using support vector machine and extreme learning machine for transmission line protection 显示文摘	Malathi V Marimuthu N S Baskar S	2010	Neurocomputing2010，73，1012：	1
19	Multispectrum analysis of self- and nitrogen- broadening, pressure shifting and line mixing in the v3 parallel band of ^12CH3D显示文摘	Malathy D V Chris B D Ann S H M	2002	Joural of Quantitative Spectroscopy and Radiative trans- fer2002，73，6：	1
20	Emerging geminivirus problems: A serious threat to crop production 显示文摘	Varma A Malathi V G	2003	Annals of Applied Biology2003，142，2：	1

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