title: Hemojuvelin (HJV)-associated hemochromatosis: analysis of HJV and HFE mutations and iron overload in three families.
abstract: Juvenile hemochromatosis is a severe form of hereditary iron overload. It can be caused by mutations in either hepcidin or hemojuvelin genes. In this study we identified the molecular basis of juvenile hemochromatosis in three Australian families and assessed the role of potential modifying genes in individuals carrying HFE mutations.
authors.forename: Daniel F
authors.initials: DF
authors.lastname: Wallace
authors.forename: Jeannette L
authors.initials: JL
authors.lastname: Dixon
authors.forename: Grant A
authors.initials: GA
authors.lastname: Ramm
authors.forename: Gregory J
authors.initials: GJ
authors.lastname: Anderson
authors.forename: Lawrie W
authors.initials: LW
authors.lastname: Powell
authors.forename: Nathan
authors.initials: N
authors.lastname: Subramaniam
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D023181:Antimicrobial Cationic Peptides / Q000378:metabolism; D001315:Australia; D005192:Family Health; D005260:Female; D058851:GPI-Linked Proteins; D006432:Hemochromatosis / Q000378:metabolism*; D000071020:Hemochromatosis Protein; D064451:Hepcidins; D006801:Humans; D019190:Iron Overload; D008297:Male; D008565:Membrane Proteins / Q000378:metabolism*; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree
chemical_list: D023181:Antimicrobial Cationic Peptides; D058851:GPI-Linked Proteins; C578702:HAMP protein, human; C481006:HJV protein, human; D000071020:Hemochromatosis Protein; D064451:Hepcidins; D008565:Membrane Proteins