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Pathophysiological consequences and benefits of HFE mutations: 20 years of research
Mutations in the HFE (hemochromatosis) gene cause hereditary hemochromatosis, an iron overload disorder that is hallmarked by excessive accumulation of iron in parenchymal organs. The HFE mutation p.Cys282Tyr is pathologically most relevant and occurs in the Caucasian population with a carrier frequ...
Autores principales: | Hollerer, Ina, Bachmann, André, Muckenthaler, Martina U. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Ferrata Storti Foundation
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477599/ https://www.ncbi.nlm.nih.gov/pubmed/28280078 http://dx.doi.org/10.3324/haematol.2016.160432 |
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