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Appropriate Clinical Genetic Testing of Hemochromatosis Type 2–4, Including Ferroportin Disease
Hereditary hemochromatosis (HH) is an inherited iron overload disorder due to a deficiency of hepcidin, or a failure of hepcidin to degrade ferroportin. The most common form of HH, Type 1 HH, is most commonly due to a homozygous C282Y mutation in HFE and is relatively well understood in significance...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Dove
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8369226/ https://www.ncbi.nlm.nih.gov/pubmed/34413666 http://dx.doi.org/10.2147/TACG.S269622 |