Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
Nature genetics, 2003•nature.com
Animal models indicate that the antimicrobial peptide hepcidin (HAMP; OMIM 606464) is
probably a key regulator of iron absorption in mammals. Here we report the identification of
two mutations (93delG and 166C→ T) in HAMP on 19q13 in two families with a new type of
juvenile hemochromatosis.
probably a key regulator of iron absorption in mammals. Here we report the identification of
two mutations (93delG and 166C→ T) in HAMP on 19q13 in two families with a new type of
juvenile hemochromatosis.
Abstract
Animal models indicate that the antimicrobial peptide hepcidin (HAMP; OMIM 606464) is probably a key regulator of iron absorption in mammals. Here we report the identification of two mutations (93delG and 166C→ T) in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis.
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