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The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis

The A16V mitochondrial targeting sequence polymorphism influences the antioxidant activity of MnSOD, an enzyme involved in neutralising iron induced oxidative stress. Patients with hereditary haemochromatosis develop parenchymal iron overload, which may lead to cirrhosis, diabetes, hypogonadism, and...

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Autori principali: Valenti, L, Conte, D, Piperno, A, Dongiovanni, P, Fracanzani, A, Fraquelli, M, Vergani, A, Gianni, C, Carmagnola, L, Fargion, S
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2004
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735653/
https://ncbi.nlm.nih.gov/pubmed/15591282
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.019588
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