Ontology highlight
ABSTRACT: Background
Hereditary hemochromatosis is the most frequent, identified, genetic disorder in Caucasians affecting about 1 in 1000 people of Northern European ancestry, where the associated genetic defect (homozygosity for the p.Cys282Tyr polymorphism in the HFE gene) has a prevalence of approximately 1:200. The disorder is characterized by excess iron stores in the body. Due to the incomplete disease penetrance of disease-associated genotype, genetic testing and accurate quantification of hepatic iron content by histological grading of stainable iron, quantitative chemical determination of iron, or imaging procedures are important in the evaluation and staging of hereditary hemochromatosis.Methods
We here established novel laser ablation inductively coupled plasma mass spect
SUBMITTER: Kim P
PROVIDER: S-EPMC6278171 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature