Article
The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2016
Wallace Daniel F, Subramaniam V Nathan
Abstract excerpt
PURPOSE: The prevalence of HFE-related hereditary hemochromatosis (HH) among European populations has been well studied. There are no prevalence data for atypical forms of HH caused by mutations in HFE2, HAMP, TFR2, or SLC40A1. The purpose of this study was to estimate the population prevalence of these non-HFE forms of HH. METHODS: A list of HH pathogenic variants in publically available next-generation sequence...
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