Absence of hepcidin gene mutations in 10 Italian patients with primary iron overload

Haematologica

Volumn 87, Issue 2, 2002, Pages 221-222

  Majore, Silvia ^a   Binni, Francesco ^a   Ricerca, Bianca Maria ^a   Brioli, Gloria ^a   Grammatico, Paola ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Gene mutation; Hepcidin; Hereditary hemochromatosis

Indexed keywords

GENE PRODUCT; HEPCIDIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CLINICAL ARTICLE; FEMALE; GENE AMPLIFICATION; GENE MUTATION; HEMOCHROMATOSIS; HUMAN; IRON METABOLISM; IRON OVERLOAD; ITALY; MALE; SEQUENCE ANALYSIS;

ADULT; AGED; ANTIMICROBIAL CATIONIC PEPTIDES; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA ANTIGENS; HUMANS; ITALY; MALE; MEMBRANE PROTEINS; MIDDLE AGED; POINT MUTATION; POLYMERASE CHAIN REACTION; TRANSCRIPTION FACTORS; UPSTREAM STIMULATORY FACTORS;

EID: 0036179898     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
2. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
3. Uncommon mutations and polymorphisms in the hemochromatosis gene
4. Juvenile hemochromatosis locus maps to chromosome 1q
5. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
6. Mutation analysis of the transferrin receptor-2 gene in patients with iron overload
7. TFR2 Y25OX mutation in Italy
8. Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice
9. Hepcidin: A putative iron-regulatory hormone relevant to hereditary hemochromatosis and the anemia of chronic disease
10. A reverse-hybridization assay for the rapid and simultaneous detection of nine HFE gene mutations