Article
Rapid single-tube screening of the C282Y hemochromatosis mutation by real-time multiplex allele-specific PCR without fluorescent probes.
Clinical chemistry - 1 Oct 2000
Donohoe G G, Laaksonen M, Pulkki K, Rönnemaa T, Kairisto V
Abstract excerpt
BACKGROUND: An accurate determination of the major HFE mutation (C282Y), which is associated with hereditary hemochromatosis, is important in diagnosis and risk assessment for this disease. We report a single-tube high-throughput PCR method for the detection of C282Y. METHODS: We combined three previously described principles: allele-specific PCR, mutagenically separated PCR, and amplicon identification by...
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