Article
Evaluation of a bone morphogenetic protein 6 variant as a cause of iron loading.
Human genomics - 25 Apr 2018
McDonald Cameron J, Rishi Gautam, Secondes Eriza S, Ostini Lesa, Wallace Daniel F, Crawford Darrell H G, Sia Hanlon, Clark Paul, Subramaniam V Nathan
Abstract excerpt
BACKGROUND: Atypical iron overload without variation in the five clinically associated hereditary hemochromatosis genes is now recognized; however, their etiology remains unknown. Since the identification of iron overload in the bone morphogenetic protein 6 (Bmp6) knockout mouse, the search has been on for clinically pathogenic variants in the BMP6 gene. A recent report proposes that variants in the pro-peptide...
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