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Items for "hemochromatosis"

A pediatric perspective on hemochromatosis: not just “an old man's disease” Eine pädiatrische Sichtweise der Hämochromatosis: nicht nur ein Altersleiden

Hemochromatosis, once considered to be an autosomal recessive disorder of increased iron absorption, predominantly affecting men after the fourth decade of life, is now known to be a syndrome caused by mutations in at least five different genes, one of which results in an autosomal dominant form of the disease...

Keywords: Genetik, Hämochromatose, juvenil, Kind

03/2006 | LaboratoriumsMedizin, Walter de Gruyter
Improved real-time detection of the H63D and S65C mutations associated with hereditary hemochromatosis using a SimpleProbe assay format

Background: Genetic predisposition to hemochromatosis involves several different point mutations in the HFE gene...

Keywords: hemochromatosis, hybridization probes, LightCycler, mutation detection, SimpleProbe

07/2008 | Clinical Chemical Laboratory Medicine, Walter de Gruyter