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Unique genetic profile of hereditary hemochromatosis in Russians: High frequency of C282Y mutation in population, but not in patients

Ekaterina Potekhina, L. М. Samokhodskaya, Anastasia Efimenko, Alexander V. Balatskiy, Alexander A. Baev, Maria Litvinova, Ludmila A. Nikitina, German A. Shipulin, Nikolay P. Bochkov, Valery N. Bochkov

Blood Cells Molecules and Diseases · 2005 · 28 citations · 33 references

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References

33

A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis

John N. Feder, Andreas Gnirke, Zenta Tsuchihashi et al. · Nature Genetics · 1996 · 3.7K citations

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Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA

Ernest Beutler, Vincent J. Felitti, James A. Koziol et al. · The Lancet · 2002 · 831 citations

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Global prevalence of putative haemochromatosis mutations.

Alison T. Merryweather‐Clarke, J. J. Pointon, Jeremy D. Shearman et al. · Journal of Medical Genetics · 1997 · 794 citations · Full text

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Mutation Analysis in Hereditary Hemochromatosis

Ernest Beutler, Terri Gelbart, Carol West et al. · Blood Cells Molecules and Diseases · 1996 · 427 citations

, , +14

Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.

Massimo Carella, Luigi D’Ambrosio, Antonio Totaro et al. · PubMed · 1997 · 320 citations · Full text

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