Article
Hemochromatosis (HFE) gene sequence analysis of formalin-fixed, paraffin-embedded liver biopsy specimens.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology - 1 Dec 2001
Przygodzki R M, Goodman Z D, Rabin L, Centeno J A, Liu Y, Hubbs A E, O'Leary T J
Abstract excerpt
BACKGROUND: Hereditary hemochromatosis (HH) is a common disease predominantly characterized by mutations of the HFE gene. METHODS AND RESULTS: We investigated the utility of HFE gene sequence analysis in the diagnosis of HH in 61 prospectively accrued formalin-fixed, paraffin-embedded liver biopsy specimens with clinical or histologic features suggestive of HH. Mutations in codons 63 or 282 of the HFE gene were...
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