Article
MRI-Based Iron Phenotyping and Patient Selection for Next-Generation Sequencing of Non-Homeostatic Iron Regulator Hemochromatosis Genes.
Hepatology (Baltimore, Md.) - 1 Nov 2021
Viveiros André, Schaefer Benedikt, Panzer Marlene, Henninger Benjamin, Plaikner Michaela, Kremser Christian, Franke André, Franzenburg Sören, Hoeppner Marc P, Stauder Reinhard, Janecke Andreas, Tilg Herbert, Zoller Heinz
Abstract excerpt
BACKGROUND AND AIMS: High serum ferritin is frequent among patients with chronic liver disease and commonly associated with hepatic iron overload. Genetic causes of high liver iron include homozygosity for the p.Cys282Tyr variant in homeostatic iron regulator (HFE) and rare variants in non-HFE genes. The aims of the present study were to describe the landscape and frequency of mutations in hemochromatosis genes...
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