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HJV

MIM.608374 1q21

Friday 12 October 2007

Pathology

- germline mutations in juvenile hemochromatosis (type 2A hemochromatosis) (MIM.602390)

References

- Milet J, Dehais V, Bourgain C, Jouanolle AM, Mosser A, Perrin M, Morcet J, Brissot P, David V, Deugnier Y, Mosser J. Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. Am J Hum Genet. 2007 Oct;81(4):799-807. PMID: 17847004

- Gehrke, S. G.; Peitrangelo, A.; Kascak, M.; Braner, A.; Eisold, M.; Kulaksiz, H.; Herrmann, T.; Hebling, U.; Bents, K.; Gugler, R.; Stremmel, W. : HJV gene mutations in European patients with juvenile hemochromatosis. Clin. Genet. 67: 425-428, 2005. PubMed ID : 15811010