Article
Does the SLC40A1 gene modify HFE-related haemochromatosis phenotypes?
Annals of hematology - 1 Apr 2009
Altès Albert, Bach Vanessa, Ruiz Angels, Esteve Anna, Remacha Angel F, Sardà M Pilar, Felez Jordi, Baiget Montserrat
Abstract excerpt
Most hereditary haemochromatosis patients are homozygous for the C282Y mutation of the HFE gene. However, the phenotypic expression and clinical aggressiveness of the disease differs considerably from patient to patient. The main objective of this work was to study the role of variants in the SLC40A1 gene in the severity of iron overload and his clinical consequences in 100 Spanish probands homozygous for the...
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