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...

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Detalles Bibliográficos
Autores principales: Hollerer, Ina, Bachmann, André, Muckenthaler, Martina U.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ferrata Storti Foundation 2017
Materias:
Review Article
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

Internet

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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