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Clinical Penetrance of Hereditary Hemochromatosis-Related End-Organ Damage of C282Y Homozygosity, A Newfoundland Experience
Hereditary hemochromatosis is an autosomal recessive disorder of iron absorption, leading to organ dysfunction. C282Y gene homozygosity is implicated in 80%–95% of cases of hereditary hemochromatosis. The clinical penetrance of this genotype remains unclear. The purpose of the study was to better de...
Autores principales: | Lim, Dennis R., Vidyasankar, Gokul, Phua, Chai, Borgaonkar, Mark |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7665264/ https://www.ncbi.nlm.nih.gov/pubmed/33259166 http://dx.doi.org/10.14309/ctg.0000000000000258 |
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