SLC40A1-related hemochromatosis associated with a p.Y333H mutation in mainland China: a pedigree report and literature review
Abstract Background Haemochromatosis is a genetic disease characterized by the excessive deposition of iron in various tissues and organs, eventually results in organ damage including cirrhosis, diabetes, cardiomyopathy, etc. SLC40A1-related haemochromatosis is associated with gain-of-function mutat...
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