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Article

Genotype phenotype correlation in Wilson's disease within families--a report on four south Indian families.

World journal of gastroenterology - 7 Aug 2008

Santhosh S, Shaji R V, Eapen C E, Jayanthi V, Malathi S, Finny P, Thomas N, Chandy M, Kurian G, Chandy G M

Abstract excerpt

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 classification of WD. DNA was extracted from peripheral blood and 21 exons of ATP7B gene and flanking introns were amplified by polymerase chain reaction...

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Identifiers

PMID: 18698682
DOI: 10.3748/wjg.14.4672
PMCID: PMC2738792

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