Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family

Haematologica

Volumn 88, Issue 7, 2003, Pages 824-826

  Rivard, Sylvain R ^c   Lanzara, Carmela ^c   Grimard, Doria ^c   Carella, Massimo ^c   Simard, Hervey ^c   Ficarella, Romina ^c   Simard, Raynald ^c   D'Adamo, Adamo Pio ^c   De Braekeleer, Marc ^a   Gasparini, Paolo ^b  

^a UNIVERSITÉ DE BRETAGNE OCCIDENTALE   (France)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^c NONE

Author keywords

Autosomal dominant iron overload; FERROPORTIN 1; French Canadian family

Indexed keywords

FERRITIN; FERROPORTIN 1; IRON; PROTEIN; TRANSFERRIN; UNCLASSIFIED DRUG;

ADULT; AGED; ALPHA HELIX; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CANADA; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; FATTY LIVER; FEMALE; FERRITIN BLOOD LEVEL; FERROPORTIN 1 GENE; GENE; HELIX 3; HEMOCHROMATOSIS; HUMAN; IRON OVERLOAD; IRON STORAGE; LIVER BIOPSY; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PHLEBOTOMY; RETICULOENDOTHELIAL SYSTEM; TRANSFERRIN BLOOD LEVEL;

ADULT; AGED; CANADA; CATION TRANSPORT PROTEINS; FEMALE; FRANCE; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HEMOCHROMATOSIS; HUMANS; KUPFFER CELLS; MACROPHAGES; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE;

EID: 0038536855     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

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