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Article

Efficient strategy for molecular diagnosis of Wilson disease in the sardinian population.

Clinical chemistry - 1 Mar 2003

Lovicu Mario, Dessi Valeria, Zappu Antonietta, De Virgiliis Stefano, Cao Antonio, Loudianos Georgios

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 12600964
DOI: 10.1373/49.3.496

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Development of TaqMan allelic specific discrimination assay for detection of the most common Sardinian Wilson's disease mutations. Implications for genetic screening.Semantic proximity Read ↗

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High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs.Semantic proximity Read ↗

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Analysis of mutations spectrum in the ATP7B gene in patients with Wilson disease using massively parallel sequencing.Semantic proximity Read ↗

The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian populationSemantic proximity Read ↗

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