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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 | Pathogenesis of cholangitis in obstructive jaundice-revisited显示文摘 | Navaneethan U Jayanthi V Mohan P | 2011 | Minerva Gastroenterol Dietol2011，57，1： | 1 |
| 3 | Pathogenesis of eholangitis in obstructive jaundice-revisited显示文摘 | Navaneethan U Jayanthi V Mohan P | 2011 | Minerva Gastroenterol Dietol2011，57，1： | 1 |
| 4 | Oral lichen planus :An up-date on pathogenesis and treatment显示文摘 | Lavanya N Jayanthi P Rao UK | 2011 | J Oral Maxillofac Pathol2011，15，2： | 1 |
| 5 | Evolution,homology conservation and identification of unique sequence signatures in GH19 family chitinases显示文摘 | UDAYA P N JAYANTHI M SABARINATHAN R | 2010 | Journal of Molecular Evolution2010，70，5： | 1 |
| 6 | Epithelioid he- mangioma of the alveolar mucosa显示文摘 | Sarswathi TR Nalinkumar S Jayanthi P | 2005 | JOMFP2005，9，1： | 1 |
| 7 | Or- ganochlorine pesticides in commercial marine fishes of Coimbatore, India and their suitability for human con- sumption 显示文摘 | Muralidharan S Dhananjayan V Jayanthi P | 2009 | Environmental Research2009，109，1： | 1 |
| 8 | Oral lichen planus:An update onpathogenesis and treatment 显示文摘 | Lavanya N Jayanthi P Rao UK | 2011 | J Oral Maxillofac Patho12011，15，2： | 1 |
| 9 | Oral lichen planus: an update on pathogenesis and treatment显示文摘 | Lavanya N Jayanthi P Rao UK | 2011 | J Oral Maxillofac Pathol2011，15，2： | 1 |
| 10 | Organochlorinepesticides in commercial marine fishes of Coimbatore,India and theirsuitability for human consumption显示文摘 | MURALIDHARAN S DHANANJAYAN V JAYANTHI P | 2009 | Environ Res2009，109，： | 1 |
| 11 | Organochlorine pesticides in commercial marine fishes of Coimbatore,India and their suitability for human consumption显示文摘 | MURALIDHARAN S DHANANJAYAN V JAYANTHI P | 2009 | Environment Research2009，109，1： | 1 |
| 12 | Oral lichen planus: An update on pathogenesis and treatment 显示文摘 | Lavanya N Jayanthi P Rao UK | 2011 | J Oral Maxillofac Pathol2011，15，2： | 1 |
| 13 | Oral lichen planus:An update on pathogenesis and lalment 显示文摘 | Lavanya N Jayanthi P Rao UK | 2011 | J Oral Maxillofac Pathol2011，15，2： | 1 |
| 14 | A simple and cost-effective mass rearing technique for the tephritidae fruit fly, Bactrocera dorsalis (Hendel) 显示文摘 | JAYANTHI P D K VERGHESE A | 2002 | Current Science2002，82，3： | 1 |
| 15 | Oral lichen planus:An update on pathogenesis and treatment 显示文摘 | Lavanya N Jayanthi P Rao UK | 2011 | J Oral Maxillofac Pathol2011，15，2： | 1 |
| 16 | Raman-induced timing jitter in dispersion-managed optical communication systems显示文摘 | Jayanthi Santhanam and Agrawal G P | 2002 | IEEE Journal of Selected Topics in Quantum Electronics2002，8，3： | 1 |
| 17 | Pathogenesis of cholangitis in obstructive jaundice-revisited显示文摘 | Navaneethan U Jayanthi V Mohan P | | 0，，： | 1 |
| 18 | Oral lichen planus: An updateon pathogenesis and treatment显示文摘 | Lavanya N Jayanthi P Rao UK | 2011 | J Oral Maxillofac Pathol2011，15，2： | 1 |
| 19 | A simple and cost-effective mass rearing technique for the tephritidae fruit fly, Bactrocera dorsalis (Hendel) 显示文摘 | Jayanthi P D K Verghese A | 2002 | Current Science2002，82，3： | 1 |
| 20 | Oral lichen planus : an update on pathogenesis and treatment显示文摘 | Lavanya N Jayanthi P Rao UK | 2011 | J Oral Maxillofac Pathol2011，15，2： | 1 |
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