C282Y/H63D Compound Heterozygosity Is a Low Penetrance Genotype for Iron Overload-related Disease

BACKGROUND: Hereditary hemochromatosis (HH) occurs due to mutations in the HFE gene. While the C282Y mutation is the most common genotype reported in HH, other genotypes are found less frequently, indicating variable degrees of penetrance. We studied the penetrance of the C282Y/H63D compound heteroz...

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Detalles Bibliográficos
Autores principales: Hasan, S M Mahmudul, Farrell, James, Borgaonkar, Mark
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9527664/
https://www.ncbi.nlm.nih.gov/pubmed/36196271
http://dx.doi.org/10.1093/jcag/gwac025

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9527664/
https://www.ncbi.nlm.nih.gov/pubmed/36196271
http://dx.doi.org/10.1093/jcag/gwac025

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