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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...

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Detalles Bibliográficos
Autores principales: Kowdley, Devan S, Kowdley, Kris V
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2021
Materias:
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