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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 | 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 | Asynchronous Distributed Simulation via a Sequence of Parallel Computations 显示文摘 | Chandy K M Misra J | 1981 | Communications of the ACM (S0001-0782)1981，24，11： | 1 |
| 4 | Central obesity is an independent risk factor for albuminuria in nondiabetic South Asian subjects 显示文摘 | Chandie Shaw P K Berger S P Mallat M | 2007 | Diabetes Care2007，30，7： | 1 |
| 5 | Approximate Methods for Analyzing Queueing Network Models of Computing System 显示文摘 | Chandy K M Sauer C H | 1978 | Computing Surveys1978，，6： | 1 |
| 6 | Distributed simulation:A case study in design and verification of distributed programs显示文摘 | J Misra | 1979 | IEEE Transactions on Software Engineering1979，5，5： | 1 |
| 7 | 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 |
| 8 | Consumer cocreation in new product development显示文摘 | Hoyer W D Chandy R Dorotic M | 2010 | Joumal of Service Research2010，13，3： | 1 |
| 9 | The impact of acquisitions on innovation : poison pill, placebo, or tonic显示文摘 | PRABHU J C CHANDY R K ELLIS M E | 2005 | Journal of Marketing2005，，69： | 1 |
| 10 | Validation study of a central venous pressure based protocol for the nlanagement of neurosugical patient with hyponatremia and natriuresis 显示文摘 | DAMARAJU S C RAJSHEKHAR V CHANDY M J | 1997 | Neuro surgery1997，40，2： | 1 |
| 11 | A comparison of list scheduling for parallel processing systems显示文摘 | T L Adam K M Chandy J R Dickson | 1974 | Communications of the ACM1974，17，12： | 1 |
| 12 | The impact of ac- quisitions on innovation: Poison pill, placebo, or tonic? 显示文摘 | Prabhu J C Chandy R K Ellis M E | 2005 | Journal of Marketing2005，69，1： | 1 |
| 13 | 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 |
| 14 | Distributed simulation:a case study in design and verification of distributed programs显示文摘 | K M Chandy J Misra | 1979 | IEEE Transactions on Software Engineering1979，5，5： | 1 |
| 15 | Water sorption and water binding properties of crosslinked polyacrylamides:Effect of macromolecular structure and crosslinking 显示文摘 | Chandy M C Rajasekharan Pillai V N | 1995 | Polym lnter1995，37，1： | 1 |
| 16 | Ignition Delay for Jet Propellant 10/Air and Jet Propellant 10/High-Energy Density Fuel/Air Mixture 显示文摘 | David W M Segal C Chandy A | 2003 | Journal of Propulsion and Power2003，19，4： | 1 |
| 17 | Participatory sensing: applications and architecture显示文摘 | ESTRIN D CHANDY K M YOUNG R M | 2010 | IEEE Internet Computing2010，14，1： | 1 |
| 18 | Determination of nutrients limiting biofilm formation and the subsequent impact on disinfectant decay 显示文摘 | Chandy J P Angles M L | 2001 | Wat Res2001，35，11： | 1 |
| 19 | Distributed Snapshots: Determining Global States of Distributed Systems显示文摘 | Chandy K M Lamport L | 1985 | ACM Trans on Computer Systems1985，3，1： | 1 |
| 20 | The impact ofacquisitions on innovation: Poison pill, placebo, or to-nic?显示文摘 | Prabhu J C Chandy R K Ellis M K | 2005 | Journal of Marketing2005，69，1： | 1 |
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