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Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.
- Source :
-
Nature genetics [Nat Genet] 2003 Jan; Vol. 33 (1), pp. 21-2. Date of Electronic Publication: 2002 Dec 09. - Publication Year :
- 2003
-
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.
- Subjects :
- Amino Acid Sequence
Antimicrobial Cationic Peptides chemistry
Base Sequence
Child
DNA Mutational Analysis
Female
Hepcidins
Humans
Male
Molecular Sequence Data
Pedigree
Polymorphism, Single-Stranded Conformational
Antimicrobial Cationic Peptides genetics
Hemochromatosis genetics
Mutation genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1061-4036
- Volume :
- 33
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Nature genetics
- Publication Type :
- Academic Journal
- Accession number :
- 12469120
- Full Text :
- https://doi.org/10.1038/ng1053