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Article

Allele dropout in PCR-based diagnosis of Wilson disease: mechanisms and solutions.

Clinical chemistry - 1 Mar 2006

Lam Ching-Wan, Mak Chloe M

Abstract excerpt

BACKGROUND: We investigated the mechanisms leading to allele dropout-the nonamplification of 1 of the alleles-in PCR-based diagnosis of Wilson disease (WD). METHODS: We extracted genomic DNA from blood samples from 6 WD patients (P1-P6) with allele dropouts detected in a previous study of WD in a Hong Kong Chinese population. We amplified the ATP7B gene by PCR and performed direct DNA sequencing of all exons of...

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PMID: 16510432
DOI: 10.1373/clinchem.2005.060491

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