Concepedia

Three kinships with ALAS2 P520L (c. 1559 C → T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload

Pauline L. Lee, James C. Barton, Sreenivas V. Rao, Ronald T. Acton, Brian K. Adler, Ernest Beutler

Blood Cells Molecules and Diseases · 2006 · 18 citations · 15 references

DOI

Concepts

References

15

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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Management of Hemochromatosis

James C. Barton, Sharon M. McDonnell, Paul C. Adams et al. · Annals of Internal Medicine · 1998 · 258 citations

[Management of hemochromatosis].

Liliane Régent · PubMed · 2007 · 209 citations

, , +1

Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin

Pauline L. Lee, Ernest Beutler, Sreenivas V. Rao et al. · Blood · 2004 · 136 citations · Full text

Hemochromatosis and Iron Overload Screening (HEIRS) Study Design for an Evaluation of 100,000 Primary Care-Based Adults

Christine E. McLaren, James C. Barton, Paul C. Adams et al. · The American Journal of the Medical Sciences · 2003 · 127 citations

, , +9