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| 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 | 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 |
| 3 | Role of additives in bright zinc deposition from cyanide free alkaline baths显示文摘 | Shanmic M Malathy P | 2006 | Journal of Applied Electrochemistry2006，36，3： | 1 |
| 4 | 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 |
| 5 | A transcriptional signaling pathway in the IFN sys- tem mediated by 2', 5'-oligoadenylate activation of Rnase显示文摘 | MALATHI K PARANJAPE J M BULANOVA E | 2005 | PNAS2005，102，14： | 1 |
| 6 | A transcriptional sig- naling pathway in the IFN system mediated by 2'-5 '-oligoadenylate activation of RNase L 显示文摘 | Malathi K Paranjape J M Bulanova E | 2005 | Proceedings of the National Academy of Sciences of the United States of America2005，102，14： | 1 |
| 7 | Small self-RNA generated by RNase L amplifies antiviral innate immunity 显示文摘 | Malathi K Dong B Gale M J | 2007 | Nature2007，448，： | 1 |
| 8 | 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 |
| 9 | Pulse and pulse reverse plating-Conceptual, advantages and applications 显示文摘 | Chandrasekar M S Malathy Pushpavanam | 2008 | Electrochimica Acta2008，53，： | 1 |
| 10 | 查看详情显示文摘 | Ekambaram R Rathna D. R. S. M Ragavachary R Shilpakala S Malathi R | | 0，，： | 1 |
| 11 | Wavelet-support vector mach-ine approach for classification of power quality distur -bances显示文摘 | Karthikeyan M Malathi V | 2009 | International Journal of Recent Trends in Engi-neering2009，1，3： | 1 |
| 12 | Cutaneous leiomyosarcoma,trichoblastoma,and syringocystadenoma papilliferum arising from nevus sebaceous显示文摘 | Premalata CS Kumar RV Malathi M | 2007 | Int J Dermatol2007，46，3： | 1 |
| 13 | Pathogenic and molecular confirmation of Fuaarium sacchari causing wilt in sugarcane显示文摘 | Viswanathan R Poongothai M Malathi P | 2011 | Sugar Tech2011，13，： | 1 |
| 14 | Dielectric relaxation studies of nylon 11 with phenol derivatives in non-polar solvents using time domain refleetometry 显示文摘 | Mohan K P Malathi M | 2009 | Journal of Molecular Liquids2009，145，1： | 1 |
| 15 | Effect ofa diabetes counseling programme on knowledge, attitude andpractice among diabetic patients in Erode district of SouthIndia 显示文摘 | MALATHY R NARMADHA M RAMESH S | 2011 | J Young Pharm2011，3，1： | 1 |
| 16 | Wavelet-support vectormachine approach for classification of power qualitydisturbances显示文摘 | Malathi V Karthikeyan M | 2009 | International Journal of Recent Trends inEngineering2009，1，3： | 1 |
| 17 | A transcriptional signa- ling pathway in the IFN system mediated by 2'-5'-oligoadenylate activation of RNaseL显示文摘 | Malathi K Jayashree M Paranjape | 2005 | Proc Natl Acad Sci2005，102，14： | 1 |
| 18 | Multiplex RT-PCR, a novel technique for the simultaneous detection of the DNA 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 |
| 19 | Cutaneous leiomyosarcoma,trichoblastoma,and syringocystadenoma papilliferum arising from nevus sebaceous显示文摘 | Premalata.CS Kumar RV Malathi M | | 0，，03： | 1 |
| 20 | Wavelet support vector machineapproach for classification of power quality disturbances显示文摘 | Karthikeyan M Malathi V | 2009 | International Journal of Recent Trends in Engineering2009，1，3： | 1 |
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