| Literature DB >> 26059880 |
S-R Chen1,2, L-Q Yang3, Y-T Chong1,2, Y-S Jie1,2, Y-K Wu1,2, J Yang3, G-L Lin1,2, X-H Li1,2.
Abstract
Here we report the case of a 69-year-old Chinese Han woman who presented with liver cirrhosis, diabetes mellitus, skin hyperpigmentation, hyperferritinaemia and high transferrin saturation. Subsequent genetic analyses identified a novel heterozygous mutation (p.Cys326Phe) in the SLC40A1 gene. This is the first report regarding a SLC40A1 mutation in the Chinese Han population and provides novel clinical evidence for the importance of p.Cys326 in SLC40A1 gene function.Entities:
Keywords: Chinese; SLC40A1; ferroportin disease; hereditary haemochromatosis type 4; mutation
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Year: 2015 PMID： 26059880 DOI： 10.1111/imj.12764
Source DB: PubMed Journal: Intern Med J ISSN： 1444-0903 Impact factor: 2.048