Concepedia

Dominant Hemochromatosis Due to N144H Mutation of SLC11A3: Clinical and Biological Characteristics

Omer T. Njajou, Gerard De Jong, Bianca Berghuis, Norbert Vaessen, Pieter J.L.M. Snijders, Jan P. Goossens, John Hp Wilson, Martijn H. Breuning, Ben A. Oostra, Peter Heutink,

Blood Cells Molecules and Diseases · 2002 · 48 citations · 13 references

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References

13

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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The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22

Clara Camaschella, Antonella Roetto, Marco De Gobbi et al. · Nature Genetics · 2000 · 807 citations

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A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

Omer T. Njajou, Norbert Vaessen, Marijke Joosse et al. · Nature Genetics · 2001 · 498 citations

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Hereditary Hemochromatosis in Adults without Pathogenic Mutations in the Hemochromatosis Gene

Antonello Pietrangelo, Giuliana Montosi, Cinzia Garuti et al. · New England Journal of Medicine · 1999 · 273 citations · Full text

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Juvenile Hemochromatosis Locus Maps to Chromosome 1q

Antonella Roetto, Antonio Totaro, Mario Cazzola et al. · The American Journal of Human Genetics · 1999 · 239 citations · Full text

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