Concepedia

Hereditary hypotransferrinemia can lead to elevated transferrin saturation and, when associated to HFE or HAMP mutations, to iron overload

M.-P. Beaumont-Epinette, Jean-Bernard Delobel, Martine Ropert, Yves Deugnier, Olivier Loréal, Anne‐Marie Jouanolle, Pierre Brissot, Edouard Bardou‐Jacquet

Blood Cells Molecules and Diseases · 2014 · 16 citations · 9 references

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9

Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis

Alison T. Merryweather‐Clarke · Human Molecular Genetics · 2003 · 259 citations · Full text

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Variants in TF and HFE Explain ∼40% of Genetic Variation in Serum-Transferrin Levels

Beben Benyamin, Allan F. McRae, Gu Zhu et al. · The American Journal of Human Genetics · 2008 · 173 citations · Full text

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A Family of Congenital Atransferrinemia

Nagahide Goya, Sumio Miyazaki, S Kodate et al. · Blood · 1972 · 171 citations · Full text

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Molecular characterization of a case of atransferrinemia

Ernest Beutler, Terri Gelbart, Pauline Lee et al. · Blood · 2000 · 169 citations

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HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype

Sandrine Jacolot, Gérald Le Gac, Virginie Scotet et al. · Blood · 2003 · 161 citations

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