Article
Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC.
Clinical chemistry - 1 Sept 2001
Le Gac G, Mura C, Férec C
Abstract excerpt
BACKGROUND: Between 4% and 35% of hereditary hemochromatosis (HC) probands are C282Y or H63D heterozygotes or lack both of these two common HFE mutations, and 15 novel HFE mutations have been described recently. We evaluated denaturing HPLC (DHPLC) for screening of the whole HFE coding region and further defined whether HC probands with an incomplete HFE genotype carry uncommon mutations. METHODS: Analytical...
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