Concepedia

A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote☆

Douglas C. Wallace, James Dooley, A WALKER

Gastroenterology · 1999 · 130 citations · 13 references

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References

13

A catalogue of splice junction sequences

Stephen M. Mount · Nucleic Acids Research · 1982 · 3.9K citations · Full text

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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 mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

Michael Krawczak, Jochen Reiss, D.N. Cooper · Human Genetics · 1992 · 1.4K citations

, , +17

The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding

John N. Feder, David M. Penny, Alivelu Irrinki et al. · Proceedings of the National Academy of Sciences · 1998 · 838 citations

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Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

Françoise Muscatelli, Tim M. Strom, Ann P. Walker et al. · Nature · 1994 · 769 citations

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