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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...

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Dades bibliogràfiques
Publicat a:Clin Transl Gastroenterol
Autors principals: Lim, Dennis R., Vidyasankar, Gokul, Phua, Chai, Borgaonkar, Mark
Format: Artigo
Idioma:Inglês
Publicat: Wolters Kluwer 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7665264/
https://ncbi.nlm.nih.gov/pubmed/33259166
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14309/ctg.0000000000000258
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