• Internal medicine journal · Jun 2015

    Case Reports

    Novel gain of function mutation in the SLC40A1 gene associated with hereditary haemochromatosis type 4.

    • S-R Chen, L-Q Yang, Y-T Chong, Y-S Jie, Y-K Wu, J Yang, G-L Lin, and X-H Li.
    • Department of Infectious Diseases, The Third Affiliated Hospital of Sun-Yat-Sen University, GuangZhou, China.
    • Intern Med J. 2015 Jun 1; 45 (6): 672676672-6.

    AbstractHere 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.© 2015 Royal Australasian College of Physicians.

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