Polymorphisms

Molecular epidemiology of HFE gene polymorphic variants (C282Y, H63D and S65C) in the population of Espírito Santo, Brazil

L. N. R. Alves, Santos, E. V. W., Stur, E., Conforti, A. M. A. Silva, Louro, I. D., Alves, L. N. R., Santos, E. V. W., Stur, E., Conforti, A. M. A. Silva, Louro, I. D., Alves, L. N. R., Santos, E. V. W., Stur, E., Conforti, A. M. A. Silva, and Louro, I. D., Molecular epidemiology of HFE gene polymorphic variants (C282Y, H63D and S65C) in the population of Espírito Santo, Brazil, vol. 15, p. -, 2016.

Hereditary hemochromatosis (HH) is an autosomal recessive disorder that leads to progressive iron accumulation and may cause cirrhosis, hepatocellular carcinoma, diabetes, and heart failure. Most cases of HH have been linked to mutations in genes associated with iron homeostasis. There have been three major variants in the high Fe (HFE) gene associated with the disease: C282Y, H63D and S65C.

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