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Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay
BACKGROUND: Hereditary hemochromatosis (HH) is a common genetic disease characterized by excessive iron overload that leads to multi-organ failure. Although the most prevalent genotype in HH is homozygosity for C282Y mutation of the HFE gene, two additional mutations, H63D and S65C, appear to be ass...
| Autores principales: | , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2007
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2253505/ https://www.ncbi.nlm.nih.gov/pubmed/18036208 http://dx.doi.org/10.1186/1471-2350-8-69 |