Article
Carriers of the Complex Allele HFE c.[187C>G;340+4T>C] Have Increased Risk of Iron Overload in São Miguel Island Population (Azores, Portugal).
PloS one - 1 Jan 2015
Branco Claudia C, Gomes Cidália T, De Fez Laura, Bulhões Sara, Brilhante Maria José, Pereirinha Tânia, Cabral Rita, Rego Ana Catarina, Fraga Cristina, Miguel António G, Brasil Gracinda, Macedo Paula, Mota-Vieira Luisa
Abstract excerpt
Iron overload is associated with acquired and genetic conditions, the most common being hereditary hemochromatosis (HH) type-I, caused by HFE mutations. Here, we conducted a hospital-based case-control study of 41 patients from the São Miguel Island (Azores, Portugal), six belonging to a family with HH type-I pseudodominant inheritance, and 35 unrelated individuals fulfilling the biochemical criteria of iron...
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