Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population

Faria Ricardo; Silva Bruno; Silva Catarina; Loureiro Pedro; Queiroz Ana; Fraga Sofia; Esteves Jorge; Mendes Diana; Fleming Rita; Vieira Luis; Goncalves Joao; Faustino Paula

doi:10.1016/j.bcmd.2016.07.004

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Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population

作者：Faria Ricardo; Silva Bruno; Silva Catarina; Loureiro Pedro; Queiroz Ana; Fraga Sofia; Esteves Jorge; Mendes Diana; Fleming Rita; Vieira Luis; Goncalves Joao; Faustino Paula

来源：Blood Cells, Molecules, and Diseases, 2016, 61: 10-15.

DOI：10.1016/j.bcmd.2016.07.004

摘要

Abstract(#br)Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by excessive iron absorption resulting in pathologically increased body iron stores. It is typically associated with common HFE gene mutation (p.Cys282Tyr and p.His63Asp). However, in Southern European popu...