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...

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Detalles Bibliográficos
Autores principales: Cukjati, Marko, Vaupotič, Tomaž, Rupreht, Ruth, Čurin-Šerbec, Vladka
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2007
Materias:
Research Article
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

Internet

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

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