HJV
MIM.608374 1q21
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