Article
[Genotype and phenotypic expression of hereditary hemochromatosis in Spain].
Gastroenterologia y hepatologia - 1 Oct 2004
Pardo A, Quintero E, Barrios Y, Bruguera M, Rodrigo L, Vila C, Acero D, Guarner C, Pascual S, López L, Moreno R, Fábrega E, Andrade R, Peláez G, Santos J, Buti M, Torres M
Abstract excerpt
INTRODUCTION: The prevalence of C282Y homozygosity in patients with hereditary hemochromatosis (HH) has been reported to be markedly lower in the Mediterranean Basin than in northern Europe. In Spain, the available data are contradictory and limited to small series in specific regions. The objective of this study is to determine the prevalence of the 2 main HFE gene mutations in a large series of unrelated...
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