All individuals with variants in gene SLC40A1

5 entries on 1 page. Showing entries 1 - 5.
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00019844 22890139-Fam1 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - F - Spain - - 0 - - HFE - 1 1 Mayka Sanchez
00104905 22890139-Fam5Pat1 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - M - Spain - - 0 - - HFE classic hemochromatosis; metabolic syndrome, hyperferritinemia; MRI severe iron overload phenotype, iron liver deposits (160 ╬╝mol Fe/g), not in spleen or pancreas; phlebotomy for 2y (2 g of Fe) no follow-up MRI; abdominal ultrasound, revealed steatosis 1 1 Johan den Dunnen
00104935 23600741-Pat6 PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - F - France - - 0 - - HFE see paper; arthropathy, non-HFE related haemochromatosis, elevated transferrin saturation, arthropathy; phlebotomies very well tolerated, removed 19.5 g iron 1 1 Johan den Dunnen
00292518 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00327547 family PubMed: Beck 2014 2-generation family, 5 affected (2F, 3M) F;M yes Iraq - - 0 - - retinal disease see paper; ..., Leber congenital amaurosis , Joubert syndrome, polycystic kidney disease 1 5 Johan den Dunnen
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