Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

Antonella Roettol; George Papanikolaou; Marianna Politou; Federica Alberti; Domenico Girelli; John Christakis; Dimitris Loukopoulos; Clara Camaschella

doi:10.1038/ng1053

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

Antonella Roettol, George Papanikolaou, Marianna Politou, Federica Alberti, Domenico Girelli, John Christakis, Dimitris Loukopoulos, Clara Camaschella

IRCCS Ospedale San Raffaele

Research output: Contribution to journal › Article › peer-review

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 (93deIG and 166C→T) in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis.

Original language	English
Pages (from-to)	21-22
Number of pages	2
Journal	Nature Genetics
Volume	33
Issue number	1
DOIs	https://doi.org/10.1038/ng1053
Publication status	Published - Jan 1 2003

ASJC Scopus subject areas

Genetics(clinical)
Genetics

Access to Document

10.1038/ng1053

Fingerprint Dive into the research topics of 'Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis'. Together they form a unique fingerprint.

Cite this

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. / Roettol, Antonella; Papanikolaou, George; Politou, Marianna; Alberti, Federica; Girelli, Domenico; Christakis, John; Loukopoulos, Dimitris; Camaschella, Clara.

In: Nature Genetics, Vol. 33, No. 1, 01.01.2003, p. 21-22.

Research output: Contribution to journal › Article › peer-review

@article{c5eea9b1c715436c80114c0e38ae35da,

title = "Mutant antimicrobial peptide hepcidin is associated with severe 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 (93deIG and 166C→T) in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis.",

author = "Antonella Roettol and George Papanikolaou and Marianna Politou and Federica Alberti and Domenico Girelli and John Christakis and Dimitris Loukopoulos and Clara Camaschella",

year = "2003",

month = jan,

day = "1",

doi = "10.1038/ng1053",

language = "English",

volume = "33",

pages = "21--22",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "1",

}

TY - JOUR

T1 - Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

AU - Roettol, Antonella

AU - Papanikolaou, George

AU - Politou, Marianna

AU - Alberti, Federica

AU - Girelli, Domenico

AU - Christakis, John

AU - Loukopoulos, Dimitris

AU - Camaschella, Clara

PY - 2003/1/1

Y1 - 2003/1/1

N2 - 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 (93deIG and 166C→T) in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis.

AB - 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 (93deIG and 166C→T) in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis.

UR - http://www.scopus.com/inward/record.url?scp=20244388240&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=20244388240&partnerID=8YFLogxK

U2 - 10.1038/ng1053

DO - 10.1038/ng1053

M3 - Article

C2 - 12469120

AN - SCOPUS:20244388240

VL - 33

SP - 21

EP - 22

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 1

ER -