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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2022
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| Materias: | |
| 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 |